{"id":150972,"date":"2025-11-24T09:45:06","date_gmt":"2025-11-24T09:45:06","guid":{"rendered":"https:\/\/www.newsbeep.com\/nz\/150972\/"},"modified":"2025-11-24T09:45:06","modified_gmt":"2025-11-24T09:45:06","slug":"x-chromosome-inactivation-across-primary-human-tissues-is-mostly-complete-with-significant-implications-for-genetic-and-clinical-studies-bmc-genomics","status":"publish","type":"post","link":"https:\/\/www.newsbeep.com\/nz\/150972\/","title":{"rendered":"X chromosome inactivation across primary human tissues is mostly complete, with significant implications for genetic and clinical studies | BMC Genomics"},"content":{"rendered":"<p class=\"c-article-references__text\" id=\"ref-CR1\">Lyon MF. Gene action in the X-chromosome of the mouse (Mus musculus L). Nature. 1961;190:372\u20133.<\/p>\n<p class=\"c-article-references__links u-hide-print\"><a data-track=\"click_references\" data-track-action=\"google scholar reference\" data-track-value=\"google scholar reference\" data-track-label=\"link\" data-track-item_id=\"link\" rel=\"nofollow noopener\" aria-label=\"Google Scholar reference 1\" href=\"http:\/\/scholar.google.com\/scholar_lookup?&amp;title=Gene%20action%20in%20the%20X-chromosome%20of%20the%20mouse%20%28Mus%20musculus%20L%29&amp;journal=Nature&amp;volume=190&amp;pages=372-3&amp;publication_year=1961&amp;author=Lyon%2CMF\" target=\"_blank\"><br \/>\n                    Google Scholar<\/a>\u00a0\n                <\/p>\n<p class=\"c-article-references__text\" id=\"ref-CR2\">Berletch JB, Yang F, Xu J, Carrel L, Disteche CM. Genes that escape from X inactivation. Hum Genet. 2011;130:237\u201345.<\/p>\n<p class=\"c-article-references__links u-hide-print\"><a data-track=\"click_references\" data-track-action=\"google scholar reference\" data-track-value=\"google scholar reference\" data-track-label=\"link\" data-track-item_id=\"link\" rel=\"nofollow noopener\" aria-label=\"Google Scholar reference 2\" href=\"http:\/\/scholar.google.com\/scholar_lookup?&amp;title=Genes%20that%20escape%20from%20X%20inactivation&amp;journal=Hum%20Genet&amp;volume=130&amp;pages=237-45&amp;publication_year=2011&amp;author=Berletch%2CJB&amp;author=Yang%2CF&amp;author=Xu%2CJ&amp;author=Carrel%2CL&amp;author=Disteche%2CCM\" target=\"_blank\"><br \/>\n                    Google Scholar<\/a>\u00a0\n                <\/p>\n<p class=\"c-article-references__text\" id=\"ref-CR3\">Carrel L, Willard HF. X-inactivation profile reveals extensive variability in X-linked gene expression in females. Nature. 2005;434:400\u20134.<\/p>\n<p class=\"c-article-references__links u-hide-print\"><a data-track=\"click_references\" data-track-action=\"google scholar reference\" data-track-value=\"google scholar reference\" data-track-label=\"link\" data-track-item_id=\"link\" rel=\"nofollow noopener\" aria-label=\"Google Scholar reference 3\" href=\"http:\/\/scholar.google.com\/scholar_lookup?&amp;title=X-inactivation%20profile%20reveals%20extensive%20variability%20in%20X-linked%20gene%20expression%20in%20females&amp;journal=Nature&amp;volume=434&amp;pages=400-4&amp;publication_year=2005&amp;author=Carrel%2CL&amp;author=Willard%2CHF\" target=\"_blank\"><br \/>\n                    Google Scholar<\/a>\u00a0\n                <\/p>\n<p class=\"c-article-references__text\" id=\"ref-CR4\">Berletch JB, Yang F, Disteche CM. Escape from X inactivation in mice and humans. Genome Biol. 2010;11:213.<\/p>\n<p class=\"c-article-references__links u-hide-print\"><a data-track=\"click_references\" data-track-action=\"google scholar reference\" data-track-value=\"google scholar reference\" data-track-label=\"link\" data-track-item_id=\"link\" rel=\"nofollow noopener\" aria-label=\"Google Scholar reference 4\" href=\"http:\/\/scholar.google.com\/scholar_lookup?&amp;title=Escape%20from%20X%20inactivation%20in%20mice%20and%20humans&amp;journal=Genome%20Biol&amp;volume=11&amp;publication_year=2010&amp;author=Berletch%2CJB&amp;author=Yang%2CF&amp;author=Disteche%2CCM\" target=\"_blank\"><br \/>\n                    Google Scholar<\/a>\u00a0\n                <\/p>\n<p class=\"c-article-references__text\" id=\"ref-CR5\">Cotton AM, Lam L, Affleck JG, Wilson IM, Pe\u00f1aherrera MS, McFadden DE, Kobor MS, Lam WL, Robinson WP, Brown CJ. Chromosome-wide DNA methylation analysis predicts human tissue-specific X inactivation. Hum Genet. 2011;130:187\u2013201.<\/p>\n<p class=\"c-article-references__links u-hide-print\"><a data-track=\"click_references\" data-track-action=\"google scholar reference\" data-track-value=\"google scholar reference\" data-track-label=\"link\" data-track-item_id=\"link\" rel=\"nofollow noopener\" aria-label=\"Google Scholar reference 5\" href=\"http:\/\/scholar.google.com\/scholar_lookup?&amp;title=Chromosome-wide%20DNA%20methylation%20analysis%20predicts%20human%20tissue-specific%20X%20inactivation&amp;journal=Hum%20Genet&amp;volume=130&amp;pages=187-201&amp;publication_year=2011&amp;author=Cotton%2CAM&amp;author=Lam%2CL&amp;author=Affleck%2CJG&amp;author=Wilson%2CIM&amp;author=Pe%C3%B1aherrera%2CMS&amp;author=McFadden%2CDE&amp;author=Kobor%2CMS&amp;author=Lam%2CWL&amp;author=Robinson%2CWP&amp;author=Brown%2CCJ\" target=\"_blank\"><br \/>\n                    Google Scholar<\/a>\u00a0\n                <\/p>\n<p class=\"c-article-references__text\" id=\"ref-CR6\">Cotton AM, Ge B, Light N, Adoue V, Pastinen T, Brown CJ. Analysis of expressed SNPs identifies variable extents of expression from the human inactive X chromosome. Genome Biol. 2013;14:R122.<\/p>\n<p class=\"c-article-references__links u-hide-print\"><a data-track=\"click_references\" data-track-action=\"google scholar reference\" data-track-value=\"google scholar reference\" data-track-label=\"link\" data-track-item_id=\"link\" rel=\"nofollow noopener\" aria-label=\"Google Scholar reference 6\" href=\"http:\/\/scholar.google.com\/scholar_lookup?&amp;title=Analysis%20of%20expressed%20SNPs%20identifies%20variable%20extents%20of%20expression%20from%20the%20human%20inactive%20X%20chromosome&amp;journal=Genome%20Biol&amp;volume=14&amp;publication_year=2013&amp;author=Cotton%2CAM&amp;author=Ge%2CB&amp;author=Light%2CN&amp;author=Adoue%2CV&amp;author=Pastinen%2CT&amp;author=Brown%2CCJ\" target=\"_blank\"><br \/>\n                    Google Scholar<\/a>\u00a0\n                <\/p>\n<p class=\"c-article-references__text\" id=\"ref-CR7\">Zhang Y, Castillo-Morales A, Jiang M, Zhu Y, Hu L, Urrutia AO, et al. Genes that escape X-inactivation in humans have high intraspecific variability in expression, are associated with mental impairment but are not slow evolving. Mol Biol Evol. 2013;30:2588\u2013601.<\/p>\n<p class=\"c-article-references__links u-hide-print\"><a data-track=\"click_references\" data-track-action=\"google scholar reference\" data-track-value=\"google scholar reference\" data-track-label=\"link\" data-track-item_id=\"link\" rel=\"nofollow noopener\" aria-label=\"Google Scholar reference 7\" href=\"http:\/\/scholar.google.com\/scholar_lookup?&amp;title=Genes%20that%20escape%20X-Inactivation%20in%20humans%20have%20high%20intraspecific%20variability%20in%20expression%2C%20are%20associated%20with%20mental%20impairment%20but%20are%20not%20slow%20evolving&amp;journal=Mol%20Biol%20Evol&amp;volume=30&amp;pages=2588-601&amp;publication_year=2013&amp;author=Zhang%2CY&amp;author=Castillo-Morales%2CA&amp;author=Jiang%2CM&amp;author=Zhu%2CY&amp;author=Hu%2CL&amp;author=Urrutia%2CAO&amp;author=Kong%2CX&amp;author=Hurst%2CLD\" target=\"_blank\"><br \/>\n                    Google Scholar<\/a>\u00a0\n                <\/p>\n<p class=\"c-article-references__text\" id=\"ref-CR8\">Balaton BP, Cotton AM, Brown CJ. Derivation of consensus inactivation status for X-linked genes from genome-wide studies. Biol Sex Differ. 2015;6:35.<\/p>\n<p class=\"c-article-references__links u-hide-print\"><a data-track=\"click_references\" data-track-action=\"google scholar reference\" data-track-value=\"google scholar reference\" data-track-label=\"link\" data-track-item_id=\"link\" rel=\"nofollow noopener\" aria-label=\"Google Scholar reference 8\" href=\"http:\/\/scholar.google.com\/scholar_lookup?&amp;title=Derivation%20of%20consensus%20inactivation%20status%20for%20X-linked%20genes%20from%20genome-wide%20studies&amp;journal=Biol%20Sex%20Differ&amp;volume=6&amp;publication_year=2015&amp;author=Balaton%2CBP&amp;author=Cotton%2CAM&amp;author=Brown%2CCJ\" target=\"_blank\"><br \/>\n                    Google Scholar<\/a>\u00a0\n                <\/p>\n<p class=\"c-article-references__text\" id=\"ref-CR9\">Berletch JB, Ma W, Yang F, Shendure J, Noble WS, Disteche CM, Deng X. Escape from X inactivation varies in mouse tissues. PLoS Genet. 2015;11:e1005079.<\/p>\n<p class=\"c-article-references__links u-hide-print\"><a data-track=\"click_references\" data-track-action=\"google scholar reference\" data-track-value=\"google scholar reference\" data-track-label=\"link\" data-track-item_id=\"link\" rel=\"nofollow noopener\" aria-label=\"Google Scholar reference 9\" href=\"http:\/\/scholar.google.com\/scholar_lookup?&amp;title=Escape%20from%20X%20inactivation%20varies%20in%20mouse%20tissues&amp;journal=PLoS%20Genet&amp;volume=11&amp;publication_year=2015&amp;author=Berletch%2CJB&amp;author=Ma%2CW&amp;author=Yang%2CF&amp;author=Shendure%2CJ&amp;author=Noble%2CWS&amp;author=Disteche%2CCM&amp;author=Deng%2CX\" target=\"_blank\"><br \/>\n                    Google Scholar<\/a>\u00a0\n                <\/p>\n<p class=\"c-article-references__text\" id=\"ref-CR10\">Balaton BP, Brown CJ. Escape artists of the X chromosome. Trends Genet. 2016;32:348\u201359.<\/p>\n<p class=\"c-article-references__links u-hide-print\"><a data-track=\"click_references\" data-track-action=\"google scholar reference\" data-track-value=\"google scholar reference\" data-track-label=\"link\" data-track-item_id=\"link\" rel=\"nofollow noopener\" aria-label=\"Google Scholar reference 10\" href=\"http:\/\/scholar.google.com\/scholar_lookup?&amp;title=Escape%20artists%20of%20the%20X%20chromosome&amp;journal=Trends%20Genet&amp;volume=32&amp;pages=348-59&amp;publication_year=2016&amp;author=Balaton%2CBP&amp;author=Brown%2CCJ\" target=\"_blank\"><br \/>\n                    Google Scholar<\/a>\u00a0\n                <\/p>\n<p class=\"c-article-references__text\" id=\"ref-CR11\">Dunford A, Weinstock DM, Savova V, Schumacher SE, Cleary JP, Yoda A, Sullivan TJ, Hess JM, Gimelbrant AA, Beroukhim R, et al. Tumor-suppressor genes that escape from X-inactivation contribute to cancer sex bias. Nat Genet. 2017;49:10\u20136.<\/p>\n<p class=\"c-article-references__links u-hide-print\"><a data-track=\"click_references\" data-track-action=\"google scholar reference\" data-track-value=\"google scholar reference\" data-track-label=\"link\" data-track-item_id=\"link\" rel=\"nofollow noopener\" aria-label=\"Google Scholar reference 11\" href=\"http:\/\/scholar.google.com\/scholar_lookup?&amp;title=Tumor-suppressor%20genes%20that%20escape%20from%20X-inactivation%20contribute%20to%20cancer%20sex%20bias&amp;journal=Nat%20Genet&amp;volume=49&amp;pages=10-6&amp;publication_year=2017&amp;author=Dunford%2CA&amp;author=Weinstock%2CDM&amp;author=Savova%2CV&amp;author=Schumacher%2CSE&amp;author=Cleary%2CJP&amp;author=Yoda%2CA&amp;author=Sullivan%2CTJ&amp;author=Hess%2CJM&amp;author=Gimelbrant%2CAA&amp;author=Beroukhim%2CR\" target=\"_blank\"><br \/>\n                    Google Scholar<\/a>\u00a0\n                <\/p>\n<p class=\"c-article-references__text\" id=\"ref-CR12\">Tukiainen T, Villani A-C, Yen A, Rivas MA, Marshall JL, Satija R, Aguirre M, Gauthier L, Fleharty M, Kirby A, et al. Landscape of X chromosome inactivation across human tissues. Nature. 2017;550:244\u20138.<\/p>\n<p class=\"c-article-references__links u-hide-print\"><a data-track=\"click_references\" data-track-action=\"google scholar reference\" data-track-value=\"google scholar reference\" data-track-label=\"link\" data-track-item_id=\"link\" rel=\"nofollow noopener\" aria-label=\"Google Scholar reference 12\" href=\"http:\/\/scholar.google.com\/scholar_lookup?&amp;title=Landscape%20of%20X%20chromosome%20inactivation%20across%20human%20tissues&amp;journal=Nature&amp;volume=550&amp;pages=244-8&amp;publication_year=2017&amp;author=Tukiainen%2CT&amp;author=Villani%2CA-C&amp;author=Yen%2CA&amp;author=Rivas%2CMA&amp;author=Marshall%2CJL&amp;author=Satija%2CR&amp;author=Aguirre%2CM&amp;author=Gauthier%2CL&amp;author=Fleharty%2CM&amp;author=Kirby%2CA\" target=\"_blank\"><br \/>\n                    Google Scholar<\/a>\u00a0\n                <\/p>\n<p class=\"c-article-references__text\" id=\"ref-CR13\">Wainer Katsir K, Linial M. Human genes escaping X-inactivation revealed by single cell expression data. BMC Genomics. 2019;20:201.<\/p>\n<p class=\"c-article-references__links u-hide-print\"><a data-track=\"click_references\" data-track-action=\"google scholar reference\" data-track-value=\"google scholar reference\" data-track-label=\"link\" data-track-item_id=\"link\" rel=\"nofollow noopener\" aria-label=\"Google Scholar reference 13\" href=\"http:\/\/scholar.google.com\/scholar_lookup?&amp;title=Human%20genes%20escaping%20X-inactivation%20revealed%20by%20single%20cell%20expression%20data&amp;journal=BMC%20Genomics&amp;volume=20&amp;publication_year=2019&amp;author=Wainer%20Katsir%2CK&amp;author=Linial%2CM\" target=\"_blank\"><br \/>\n                    Google Scholar<\/a>\u00a0\n                <\/p>\n<p class=\"c-article-references__text\" id=\"ref-CR14\">Navarro-Cobos MJ, Balaton BP, Brown CJ. Genes that escape from X-chromosome inactivation: potential contributors to Klinefelter syndrome. Am J Med Genet C Semin Med Genet. 2020;184:226\u201338.<\/p>\n<p class=\"c-article-references__links u-hide-print\"><a data-track=\"click_references\" data-track-action=\"google scholar reference\" data-track-value=\"google scholar reference\" data-track-label=\"link\" data-track-item_id=\"link\" rel=\"nofollow noopener\" aria-label=\"Google Scholar reference 14\" href=\"http:\/\/scholar.google.com\/scholar_lookup?&amp;title=Genes%20that%20escape%20from%20X-chromosome%20inactivation%3A%20potential%20contributors%20to%20Klinefelter%20syndrome&amp;journal=Am%20J%20Med%20Genet%20C%20Semin%20Med%20Genet&amp;volume=184&amp;pages=226-38&amp;publication_year=2020&amp;author=Navarro-Cobos%2CMJ&amp;author=Balaton%2CBP&amp;author=Brown%2CCJ\" target=\"_blank\"><br \/>\n                    Google Scholar<\/a>\u00a0\n                <\/p>\n<p class=\"c-article-references__text\" id=\"ref-CR15\">Huret C, Ferray\u00e9 L, David A, Mohamed M, Valentin N, Charlotte F, Savignac M, Goodhardt M, Gu\u00e9ry J-C, Rougeulle C, Morey C. Altered X-chromosome inactivation predisposes to autoimmunity. Sci Adv. 2024;10:eadn6537.<\/p>\n<p class=\"c-article-references__links u-hide-print\"><a data-track=\"click_references\" data-track-action=\"google scholar reference\" data-track-value=\"google scholar reference\" data-track-label=\"link\" data-track-item_id=\"link\" rel=\"nofollow noopener\" aria-label=\"Google Scholar reference 15\" href=\"http:\/\/scholar.google.com\/scholar_lookup?&amp;title=Altered%20X-chromosome%20inactivation%20predisposes%20to%20autoimmunity&amp;journal=Sci%20Adv&amp;volume=10&amp;publication_year=2024&amp;author=Huret%2CC&amp;author=Ferray%C3%A9%2CL&amp;author=David%2CA&amp;author=Mohamed%2CM&amp;author=Valentin%2CN&amp;author=Charlotte%2CF&amp;author=Savignac%2CM&amp;author=Goodhardt%2CM&amp;author=Gu%C3%A9ry%2CJ-C&amp;author=Rougeulle%2CC&amp;author=Morey%2CC\" target=\"_blank\"><br \/>\n                    Google Scholar<\/a>\u00a0\n                <\/p>\n<p class=\"c-article-references__text\" id=\"ref-CR16\">Minks J, Robinson WP, Brown CJ. A skewed view of X chromosome inactivation. J Clin Invest. 2008;118:20\u20133.<\/p>\n<p class=\"c-article-references__links u-hide-print\"><a data-track=\"click_references\" data-track-action=\"google scholar reference\" data-track-value=\"google scholar reference\" data-track-label=\"link\" data-track-item_id=\"link\" rel=\"nofollow noopener\" aria-label=\"Google Scholar reference 16\" href=\"http:\/\/scholar.google.com\/scholar_lookup?&amp;title=A%20skewed%20view%20of%20X%20chromosome%20inactivation&amp;journal=J%20Clin%20Invest&amp;volume=118&amp;pages=20-3&amp;publication_year=2008&amp;author=Minks%2CJ&amp;author=Robinson%2CWP&amp;author=Brown%2CCJ\" target=\"_blank\"><br \/>\n                    Google Scholar<\/a>\u00a0\n                <\/p>\n<p class=\"c-article-references__text\" id=\"ref-CR17\">Wise AL, Gyi L, Manolio TA. eXclusion: toward integrating the X chromosome in genome-wide association analyses. Am J Hum Genet. 2013;92:643\u20137.<\/p>\n<p class=\"c-article-references__links u-hide-print\"><a data-track=\"click_references\" data-track-action=\"google scholar reference\" data-track-value=\"google scholar reference\" data-track-label=\"link\" data-track-item_id=\"link\" rel=\"nofollow noopener\" aria-label=\"Google Scholar reference 17\" href=\"http:\/\/scholar.google.com\/scholar_lookup?&amp;title=eXclusion%3A%20toward%20integrating%20the%20X%20chromosome%20in%20genome-wide%20association%20analyses&amp;journal=Am%20J%20Hum%20Genet&amp;volume=92&amp;pages=643-7&amp;publication_year=2013&amp;author=Wise%2CAL&amp;author=Gyi%2CL&amp;author=Manolio%2CTA\" target=\"_blank\"><br \/>\n                    Google Scholar<\/a>\u00a0\n                <\/p>\n<p class=\"c-article-references__text\" id=\"ref-CR18\">Sun L, Wang Z, Lu T, Manolio TA, Paterson AD. eXclusionarY: 10 years later, where are the sex chromosomes in GWASs? Am J Hum Genet. 2023;110:903\u201312.<\/p>\n<p class=\"c-article-references__links u-hide-print\"><a data-track=\"click_references\" data-track-action=\"google scholar reference\" data-track-value=\"google scholar reference\" data-track-label=\"link\" data-track-item_id=\"link\" rel=\"nofollow noopener\" aria-label=\"Google Scholar reference 18\" href=\"http:\/\/scholar.google.com\/scholar_lookup?&amp;title=eXclusionarY%3A%2010%20years%20later%2C%20where%20are%20the%20sex%20chromosomes%20in%20gwass%3F&amp;journal=Am%20J%20Hum%20Genet&amp;volume=110&amp;pages=903-12&amp;publication_year=2023&amp;author=Sun%2CL&amp;author=Wang%2CZ&amp;author=Lu%2CT&amp;author=Manolio%2CTA&amp;author=Paterson%2CAD\" target=\"_blank\"><br \/>\n                    Google Scholar<\/a>\u00a0\n                <\/p>\n<p class=\"c-article-references__text\" id=\"ref-CR19\">Loley C, Ziegler A, K\u00f6nig IR. Association tests for X-chromosomal markers \u2013 a comparison of different test statistics. Hum Hered. 2011;71:23\u201336.<\/p>\n<p class=\"c-article-references__links u-hide-print\"><a data-track=\"click_references\" data-track-action=\"google scholar reference\" data-track-value=\"google scholar reference\" data-track-label=\"link\" data-track-item_id=\"link\" rel=\"nofollow noopener\" aria-label=\"Google Scholar reference 19\" href=\"http:\/\/scholar.google.com\/scholar_lookup?&amp;title=Association%20tests%20for%20X-chromosomal%20markers%20%E2%80%93%20a%20comparison%20of%20different%20test%20statistics&amp;journal=Hum%20Hered&amp;volume=71&amp;pages=23-36&amp;publication_year=2011&amp;author=Loley%2CC&amp;author=Ziegler%2CA&amp;author=K%C3%B6nig%2CIR\" target=\"_blank\"><br \/>\n                    Google Scholar<\/a>\u00a0\n                <\/p>\n<p class=\"c-article-references__text\" id=\"ref-CR20\">K\u00f6nig IR, Loley C, Erdmann J, Ziegler A. How to include chromosome X in your genome-wide association study. Genet Epidemiol. 2014;38:97\u2013103.<\/p>\n<p class=\"c-article-references__links u-hide-print\"><a data-track=\"click_references\" data-track-action=\"google scholar reference\" data-track-value=\"google scholar reference\" data-track-label=\"link\" data-track-item_id=\"link\" rel=\"nofollow noopener\" aria-label=\"Google Scholar reference 20\" href=\"http:\/\/scholar.google.com\/scholar_lookup?&amp;title=How%20to%20include%20chromosome%20X%20in%20your%20Genome-Wide%20association%20study&amp;journal=Genet%20Epidemiol&amp;volume=38&amp;pages=97-103&amp;publication_year=2014&amp;author=K%C3%B6nig%2CIR&amp;author=Loley%2CC&amp;author=Erdmann%2CJ&amp;author=Ziegler%2CA\" target=\"_blank\"><br \/>\n                    Google Scholar<\/a>\u00a0\n                <\/p>\n<p class=\"c-article-references__text\" id=\"ref-CR21\">Keur N, Ricano-Ponce I, Kumar V, Matzaraki V. A systematic review of analytical methods used in genetic association analysis of the X-chromosome. Brief Bioinform. 2022;23:1\u20139.<\/p>\n<p class=\"c-article-references__links u-hide-print\"><a data-track=\"click_references\" data-track-action=\"google scholar reference\" data-track-value=\"google scholar reference\" data-track-label=\"link\" data-track-item_id=\"link\" rel=\"nofollow noopener\" aria-label=\"Google Scholar reference 21\" href=\"http:\/\/scholar.google.com\/scholar_lookup?&amp;title=A%20systematic%20review%20of%20analytical%20methods%20used%20in%20genetic%20association%20analysis%20of%20the%20X-chromosome&amp;journal=Brief%20Bioinform&amp;volume=23&amp;pages=1-9&amp;publication_year=2022&amp;author=Keur%2CN&amp;author=Ricano-Ponce%2CI&amp;author=Kumar%2CV&amp;author=Matzaraki%2CV\" target=\"_blank\"><br \/>\n                    Google Scholar<\/a>\u00a0\n                <\/p>\n<p class=\"c-article-references__text\" id=\"ref-CR22\">Khramtsova EA, Wilson MA, Martin J, Winham SJ, He KY, Davis LK, Stranger BE. Quality control and analytic best practices for testing genetic models of sex differences in large populations. Cell. 2023;186:2044\u201361.<\/p>\n<p class=\"c-article-references__links u-hide-print\"><a data-track=\"click_references\" data-track-action=\"google scholar reference\" data-track-value=\"google scholar reference\" data-track-label=\"link\" data-track-item_id=\"link\" rel=\"nofollow noopener\" aria-label=\"Google Scholar reference 22\" href=\"http:\/\/scholar.google.com\/scholar_lookup?&amp;title=Quality%20control%20and%20analytic%20best%20practices%20for%20testing%20genetic%20models%20of%20sex%20differences%20in%20large%20populations&amp;journal=Cell&amp;volume=186&amp;pages=2044-61&amp;publication_year=2023&amp;author=Khramtsova%2CEA&amp;author=Wilson%2CMA&amp;author=Martin%2CJ&amp;author=Winham%2CSJ&amp;author=He%2CKY&amp;author=Davis%2CLK&amp;author=Stranger%2CBE\" target=\"_blank\"><br \/>\n                    Google Scholar<\/a>\u00a0\n                <\/p>\n<p class=\"c-article-references__text\" id=\"ref-CR23\">Clayton D. Testing for association on the X chromosome. Biostatistics. 2008;9:593\u2013600.<\/p>\n<p class=\"c-article-references__links u-hide-print\"><a data-track=\"click_references\" data-track-action=\"google scholar reference\" data-track-value=\"google scholar reference\" data-track-label=\"link\" data-track-item_id=\"link\" rel=\"nofollow noopener\" aria-label=\"Google Scholar reference 23\" href=\"http:\/\/scholar.google.com\/scholar_lookup?&amp;title=Testing%20for%20association%20on%20the%20X%20chromosome&amp;journal=Biostatistics&amp;volume=9&amp;pages=593-600&amp;publication_year=2008&amp;author=Clayton%2CD\" target=\"_blank\"><br \/>\n                    Google Scholar<\/a>\u00a0\n                <\/p>\n<p class=\"c-article-references__text\" id=\"ref-CR24\">Wang J, Yu R, Shete S. X-chromosome genetic association test accounting for X-inactivation, skewed X-inactivation, and escape from X-inactivation. Genet Epidemiol. 2014;38:483\u201393.<\/p>\n<p class=\"c-article-references__links u-hide-print\"><a data-track=\"click_references\" data-track-action=\"google scholar reference\" data-track-value=\"google scholar reference\" data-track-label=\"link\" data-track-item_id=\"link\" rel=\"nofollow noopener\" aria-label=\"Google Scholar reference 24\" href=\"http:\/\/scholar.google.com\/scholar_lookup?&amp;title=X-chromosome%20genetic%20association%20test%20accounting%20for%20X-Inactivation%2C%20skewed%20X-Inactivation%2C%20and%20escape%20from%20X-Inactivation&amp;journal=Genet%20Epidemiol&amp;volume=38&amp;pages=483-93&amp;publication_year=2014&amp;author=Wang%2CJ&amp;author=Yu%2CR&amp;author=Shete%2CS\" target=\"_blank\"><br \/>\n                    Google Scholar<\/a>\u00a0\n                <\/p>\n<p class=\"c-article-references__text\" id=\"ref-CR25\">Gao F, Chang D, Biddanda A, Ma L, Guo Y, Zhou Z, et al. XWAS: a software toolset for genetic data analysis and association studies of the X chromosome. J Hered. 2015;106:666\u201371.<\/p>\n<p class=\"c-article-references__links u-hide-print\"><a data-track=\"click_references\" data-track-action=\"google scholar reference\" data-track-value=\"google scholar reference\" data-track-label=\"link\" data-track-item_id=\"link\" rel=\"nofollow noopener\" aria-label=\"Google Scholar reference 25\" href=\"http:\/\/scholar.google.com\/scholar_lookup?&amp;title=XWAS%3A%20a%20software%20toolset%20for%20genetic%20data%20analysis%20and%20association%20studies%20of%20the%20X%20chromosome&amp;journal=J%20Hered&amp;volume=106&amp;pages=666-71&amp;publication_year=2015&amp;author=Gao%2CF&amp;author=Chang%2CD&amp;author=Biddanda%2CA&amp;author=Ma%2CL&amp;author=Guo%2CY&amp;author=Zhou%2CZ&amp;author=Keinan%2CA\" target=\"_blank\"><br \/>\n                    Google Scholar<\/a>\u00a0\n                <\/p>\n<p class=\"c-article-references__text\" id=\"ref-CR26\">Ma L, Hoffman G, Keinan A. X-inactivation informs variance-based testing for X-linked association of a quantitative trait. BMC Genomics. 2015;16:241.<\/p>\n<p class=\"c-article-references__links u-hide-print\"><a data-track=\"click_references\" data-track-action=\"google scholar reference\" data-track-value=\"google scholar reference\" data-track-label=\"link\" data-track-item_id=\"link\" rel=\"nofollow noopener\" aria-label=\"Google Scholar reference 26\" href=\"http:\/\/scholar.google.com\/scholar_lookup?&amp;title=X-inactivation%20informs%20variance-based%20testing%20for%20X-linked%20association%20of%20a%20quantitative%20trait&amp;journal=BMC%20Genomics&amp;volume=16&amp;publication_year=2015&amp;author=Ma%2CL&amp;author=Hoffman%2CG&amp;author=Keinan%2CA\" target=\"_blank\"><br \/>\n                    Google Scholar<\/a>\u00a0\n                <\/p>\n<p class=\"c-article-references__text\" id=\"ref-CR27\">\u00d6zbek U, Lin H-M, Lin Y, Weeks DE, Chen W, Shaffer JR, Purcell SM, Feingold E. Statistics for X-chromosome associations. Genet Epidemiol. 2018;42:539\u201350.<\/p>\n<p class=\"c-article-references__links u-hide-print\"><a data-track=\"click_references\" data-track-action=\"google scholar reference\" data-track-value=\"google scholar reference\" data-track-label=\"link\" data-track-item_id=\"link\" rel=\"nofollow noopener\" aria-label=\"Google Scholar reference 27\" href=\"http:\/\/scholar.google.com\/scholar_lookup?&amp;title=Statistics%20for%20X-chromosome%20associations&amp;journal=Genet%20Epidemiol&amp;volume=42&amp;pages=539-50&amp;publication_year=2018&amp;author=%C3%96zbek%2CU&amp;author=Lin%2CH-M&amp;author=Lin%2CY&amp;author=Weeks%2CDE&amp;author=Chen%2CW&amp;author=Shaffer%2CJR&amp;author=Purcell%2CSM&amp;author=Feingold%2CE\" target=\"_blank\"><br \/>\n                    Google Scholar<\/a>\u00a0\n                <\/p>\n<p class=\"c-article-references__text\" id=\"ref-CR28\">Sidorenko J, Kassam I, Kemper KE, Zeng J, Lloyd-Jones LR, Montgomery GW, Gibson G, Metspalu A, Esko T, Yang J, et al. The effect of X-linked dosage compensation on complex trait variation. Nat Commun. 2019;10:3009.<\/p>\n<p class=\"c-article-references__links u-hide-print\"><a data-track=\"click_references\" data-track-action=\"google scholar reference\" data-track-value=\"google scholar reference\" data-track-label=\"link\" data-track-item_id=\"link\" rel=\"nofollow noopener\" aria-label=\"Google Scholar reference 28\" href=\"http:\/\/scholar.google.com\/scholar_lookup?&amp;title=The%20effect%20of%20X-linked%20dosage%20compensation%20on%20complex%20trait%20variation&amp;journal=Nat%20Commun&amp;volume=10&amp;publication_year=2019&amp;author=Sidorenko%2CJ&amp;author=Kassam%2CI&amp;author=Kemper%2CKE&amp;author=Zeng%2CJ&amp;author=Lloyd-Jones%2CLR&amp;author=Montgomery%2CGW&amp;author=Gibson%2CG&amp;author=Metspalu%2CA&amp;author=Esko%2CT&amp;author=Yang%2CJ\" target=\"_blank\"><br \/>\n                    Google Scholar<\/a>\u00a0\n                <\/p>\n<p class=\"c-article-references__text\" id=\"ref-CR29\">Su Y, Hu J, Yin P, Jiang H, Chen S, Dai M, et al. XCMAX4: a robust X chromosomal genetic association test accounting for covariates. Genes. 2022;13:847.<\/p>\n<p class=\"c-article-references__links u-hide-print\"><a data-track=\"click_references\" data-track-action=\"google scholar reference\" data-track-value=\"google scholar reference\" data-track-label=\"link\" data-track-item_id=\"link\" rel=\"nofollow noopener\" aria-label=\"Google Scholar reference 29\" href=\"http:\/\/scholar.google.com\/scholar_lookup?&amp;title=XCMAX4%3A%20a%20robust%20X%20chromosomal%20genetic%20association%20test%20accounting%20for%20covariates&amp;journal=Genes&amp;volume=13&amp;publication_year=2022&amp;author=Su%2CY&amp;author=Hu%2CJ&amp;author=Yin%2CP&amp;author=Jiang%2CH&amp;author=Chen%2CS&amp;author=Dai%2CM&amp;author=Chen%2CZ&amp;author=Wang%2CP\" target=\"_blank\"><br \/>\n                    Google Scholar<\/a>\u00a0\n                <\/p>\n<p class=\"c-article-references__text\" id=\"ref-CR30\">Suzuki K, Akiyama M, Ishigaki K, Kanai M, Hosoe J, Shojima N, Hozawa A, Kadota A, Kuriki K, Naito M, et al. Identification of 28 new susceptibility loci for type 2 diabetes in the Japanese population. Nat Genet. 2019;51:379\u201386.<\/p>\n<p class=\"c-article-references__links u-hide-print\"><a data-track=\"click_references\" data-track-action=\"google scholar reference\" data-track-value=\"google scholar reference\" data-track-label=\"link\" data-track-item_id=\"link\" rel=\"nofollow noopener\" aria-label=\"Google Scholar reference 30\" href=\"http:\/\/scholar.google.com\/scholar_lookup?&amp;title=Identification%20of%2028%20new%20susceptibility%20loci%20for%20type%202%20diabetes%20in%20the%20Japanese%20population&amp;journal=Nat%20Genet&amp;volume=51&amp;pages=379-86&amp;publication_year=2019&amp;author=Suzuki%2CK&amp;author=Akiyama%2CM&amp;author=Ishigaki%2CK&amp;author=Kanai%2CM&amp;author=Hosoe%2CJ&amp;author=Shojima%2CN&amp;author=Hozawa%2CA&amp;author=Kadota%2CA&amp;author=Kuriki%2CK&amp;author=Naito%2CM\" target=\"_blank\"><br \/>\n                    Google Scholar<\/a>\u00a0\n                <\/p>\n<p class=\"c-article-references__text\" id=\"ref-CR31\">Ishigaki K, Akiyama M, Kanai M, Takahashi A, Kawakami E, Sugishita H, Sakaue S, Matoba N, Low S-K, Okada Y, et al. Large-scale genome-wide association study in a Japanese population identifies novel susceptibility loci across different diseases. Nat Genet. 2020;52:669\u201379.<\/p>\n<p class=\"c-article-references__links u-hide-print\"><a data-track=\"click_references\" data-track-action=\"google scholar reference\" data-track-value=\"google scholar reference\" data-track-label=\"link\" data-track-item_id=\"link\" rel=\"nofollow noopener\" aria-label=\"Google Scholar reference 31\" href=\"http:\/\/scholar.google.com\/scholar_lookup?&amp;title=Large-scale%20genome-wide%20association%20study%20in%20a%20Japanese%20population%20identifies%20novel%20susceptibility%20loci%20across%20different%20diseases&amp;journal=Nat%20Genet&amp;volume=52&amp;pages=669-79&amp;publication_year=2020&amp;author=Ishigaki%2CK&amp;author=Akiyama%2CM&amp;author=Kanai%2CM&amp;author=Takahashi%2CA&amp;author=Kawakami%2CE&amp;author=Sugishita%2CH&amp;author=Sakaue%2CS&amp;author=Matoba%2CN&amp;author=Low%2CS-K&amp;author=Okada%2CY\" target=\"_blank\"><br \/>\n                    Google Scholar<\/a>\u00a0\n                <\/p>\n<p class=\"c-article-references__text\" id=\"ref-CR32\">Sakaue S, Kanai M, Tanigawa Y, Karjalainen J, Kurki M, Koshiba S, Narita A, Konuma T, Yamamoto K, Akiyama M, et al. A cross-population atlas of genetic associations for 220 human phenotypes. Nat Genet. 2021;53:1415\u201324.<\/p>\n<p class=\"c-article-references__links u-hide-print\"><a data-track=\"click_references\" data-track-action=\"google scholar reference\" data-track-value=\"google scholar reference\" data-track-label=\"link\" data-track-item_id=\"link\" rel=\"nofollow noopener\" aria-label=\"Google Scholar reference 32\" href=\"http:\/\/scholar.google.com\/scholar_lookup?&amp;title=A%20cross-population%20atlas%20of%20genetic%20associations%20for%20220%20human%20phenotypes&amp;journal=Nat%20Genet&amp;volume=53&amp;pages=1415-24&amp;publication_year=2021&amp;author=Sakaue%2CS&amp;author=Kanai%2CM&amp;author=Tanigawa%2CY&amp;author=Karjalainen%2CJ&amp;author=Kurki%2CM&amp;author=Koshiba%2CS&amp;author=Narita%2CA&amp;author=Konuma%2CT&amp;author=Yamamoto%2CK&amp;author=Akiyama%2CM\" target=\"_blank\"><br \/>\n                    Google Scholar<\/a>\u00a0\n                <\/p>\n<p class=\"c-article-references__text\" id=\"ref-CR33\">Huerta-Chagoya A, Schroeder P, Mandla R, Li J, Morris L, Vora M, et al. Rare variant analyses in 51,256 type 2 diabetes cases and 370,487 controls reveal the pathogenicity spectrum of monogenic diabetes genes. Nat Genet. 2024;56:2370\u20139.<\/p>\n<p class=\"c-article-references__links u-hide-print\"><a data-track=\"click_references\" data-track-action=\"google scholar reference\" data-track-value=\"google scholar reference\" data-track-label=\"link\" data-track-item_id=\"link\" rel=\"nofollow noopener\" aria-label=\"Google Scholar reference 33\" href=\"http:\/\/scholar.google.com\/scholar_lookup?&amp;title=Rare%20variant%20analyses%20in%2051%2C256%20type%202%20diabetes%20cases%20and%20370%2C487%20controls%20reveal%20the%20pathogenicity%20spectrum%20of%20monogenic%20diabetes%20genes&amp;journal=Nat%20Genet&amp;volume=56&amp;pages=2370-9&amp;publication_year=2024&amp;author=Huerta-Chagoya%2CA&amp;author=Schroeder%2CP&amp;author=Mandla%2CR&amp;author=Li%2CJ&amp;author=Morris%2CL&amp;author=Vora%2CM&amp;author=Alkanaq%2CA&amp;author=Nagy%2CD&amp;author=Szczerbinski%2CL&amp;author=Madsen%2CJGS\" target=\"_blank\"><br \/>\n                    Google Scholar<\/a>\u00a0\n                <\/p>\n<p class=\"c-article-references__text\" id=\"ref-CR34\">Carson PE, Flanagan CL, Ickes CE, Alving AS. Enzymatic deficiency in primaquine-sensitive erythrocytes. Science. 1956;124:484\u20135.<\/p>\n<p class=\"c-article-references__links u-hide-print\"><a data-track=\"click_references\" data-track-action=\"google scholar reference\" data-track-value=\"google scholar reference\" data-track-label=\"link\" data-track-item_id=\"link\" rel=\"nofollow noopener\" aria-label=\"Google Scholar reference 34\" href=\"http:\/\/scholar.google.com\/scholar_lookup?&amp;title=Enzymatic%20deficiency%20in%20primaquine-sensitive%20erythrocytes&amp;journal=Science&amp;volume=124&amp;pages=484-5&amp;publication_year=1956&amp;author=Carson%2CPE&amp;author=Flanagan%2CCL&amp;author=Ickes%2CCE&amp;author=Alving%2CAS\" target=\"_blank\"><br \/>\n                    Google Scholar<\/a>\u00a0\n                <\/p>\n<p class=\"c-article-references__text\" id=\"ref-CR35\">Rotimi CN, Dunston GM, Berg K, Akinsete O, Amoah A, Owusu S, Acheampong J, Boateng K, Oli J, Okafor G, et al. In search of susceptibility genes for type 2 diabetes in West Africa: the design and results of the first phase of the AADM study. Ann Epidemiol. 2001;11:51\u20138.<\/p>\n<p class=\"c-article-references__links u-hide-print\"><a data-track=\"click_references\" data-track-action=\"google scholar reference\" data-track-value=\"google scholar reference\" data-track-label=\"link\" data-track-item_id=\"link\" rel=\"nofollow noopener\" aria-label=\"Google Scholar reference 35\" href=\"http:\/\/scholar.google.com\/scholar_lookup?&amp;title=In%20search%20of%20susceptibility%20genes%20for%20type%202%20diabetes%20in%20West%20africa%3A%20the%20design%20and%20results%20of%20the%20first%20phase%20of%20the%20AADM%20study&amp;journal=Ann%20Epidemiol&amp;volume=11&amp;pages=51-8&amp;publication_year=2001&amp;author=Rotimi%2CCN&amp;author=Dunston%2CGM&amp;author=Berg%2CK&amp;author=Akinsete%2CO&amp;author=Amoah%2CA&amp;author=Owusu%2CS&amp;author=Acheampong%2CJ&amp;author=Boateng%2CK&amp;author=Oli%2CJ&amp;author=Okafor%2CG\" target=\"_blank\"><br \/>\n                    Google Scholar<\/a>\u00a0\n                <\/p>\n<p class=\"c-article-references__text\" id=\"ref-CR36\">Sahota A, Brooks AI, Tischfield JA, King IB. Preparing DNA from blood for genotyping. Cold Spring Harb Protoc. 2007;2007:pdb.prot4830. <a href=\"https:\/\/doi.org\/10.1101\/pdb.prot4830\" data-track=\"click_references\" data-track-action=\"external reference\" data-track-value=\"external reference\" data-track-label=\"10.1101\/pdb.prot4830\" rel=\"nofollow noopener\" target=\"_blank\">https:\/\/doi.org\/10.1101\/pdb.prot4830<\/a>.<\/p>\n<p class=\"c-article-references__text\" id=\"ref-CR37\">Li H, Durbin R. Fast and accurate short read alignment with Burrows-Wheeler transform. Bioinformatics. 2009;25:1754\u201360.<\/p>\n<p class=\"c-article-references__links u-hide-print\"><a data-track=\"click_references\" data-track-action=\"google scholar reference\" data-track-value=\"google scholar reference\" data-track-label=\"link\" data-track-item_id=\"link\" rel=\"nofollow noopener\" aria-label=\"Google Scholar reference 37\" href=\"http:\/\/scholar.google.com\/scholar_lookup?&amp;title=Fast%20and%20accurate%20short%20read%20alignment%20with%20Burrows-Wheeler%20transform&amp;journal=Bioinformatics&amp;volume=25&amp;pages=1754-60&amp;publication_year=2009&amp;author=Li%2CH&amp;author=Durbin%2CR\" target=\"_blank\"><br \/>\n                    Google Scholar<\/a>\u00a0\n                <\/p>\n<p class=\"c-article-references__text\" id=\"ref-CR38\">Broad Institute. Picard toolkit. Cambridge, MA: Broad Institute; 2019.<\/p>\n<p class=\"c-article-references__links u-hide-print\"><a data-track=\"click_references\" data-track-action=\"google scholar reference\" data-track-value=\"google scholar reference\" data-track-label=\"link\" data-track-item_id=\"link\" rel=\"nofollow noopener\" aria-label=\"Google Scholar reference 38\" href=\"http:\/\/scholar.google.com\/scholar_lookup?&amp;title=Picard%20toolkit&amp;publication_year=2019\" target=\"_blank\"><br \/>\n                    Google Scholar<\/a>\u00a0\n                <\/p>\n<p class=\"c-article-references__text\" id=\"ref-CR39\">McKenna A, Hanna M, Banks E, Sivachenko A, Cibulskis K, Kernytsky A, Garimella K, Altshuler D, Gabriel S, Daly M, DePristo MA. The Genome Analysis Toolkit: a MapReduce framework for analyzing next-generation DNA sequencing data. Genome Res. 2010;20:1297\u2013303.<\/p>\n<p class=\"c-article-references__links u-hide-print\"><a data-track=\"click_references\" data-track-action=\"google scholar reference\" data-track-value=\"google scholar reference\" data-track-label=\"link\" data-track-item_id=\"link\" rel=\"nofollow noopener\" aria-label=\"Google Scholar reference 39\" href=\"http:\/\/scholar.google.com\/scholar_lookup?&amp;title=The%20genome%20analysis%20toolkit%3A%20a%20mapreduce%20framework%20for%20analyzing%20next-generation%20DNA%20sequencing%20data&amp;journal=Genome%20Res&amp;volume=20&amp;pages=1297-303&amp;publication_year=2010&amp;author=McKenna%2CA&amp;author=Hanna%2CM&amp;author=Banks%2CE&amp;author=Sivachenko%2CA&amp;author=Cibulskis%2CK&amp;author=Kernytsky%2CA&amp;author=Garimella%2CK&amp;author=Altshuler%2CD&amp;author=Gabriel%2CS&amp;author=Daly%2CM&amp;author=DePristo%2CMA\" target=\"_blank\"><br \/>\n                    Google Scholar<\/a>\u00a0\n                <\/p>\n<p class=\"c-article-references__text\" id=\"ref-CR40\">DePristo MA, Banks E, Poplin R, Garimella KV, Maguire JR, Hartl C, Philippakis AA, del Angel G, Rivas MA, Hanna M, et al. A framework for variation discovery and genotyping using next-generation DNA sequencing data. Nat Genet. 2011;43:491\u20138.<\/p>\n<p class=\"c-article-references__links u-hide-print\"><a data-track=\"click_references\" data-track-action=\"google scholar reference\" data-track-value=\"google scholar reference\" data-track-label=\"link\" data-track-item_id=\"link\" rel=\"nofollow noopener\" aria-label=\"Google Scholar reference 40\" href=\"http:\/\/scholar.google.com\/scholar_lookup?&amp;title=A%20framework%20for%20variation%20discovery%20and%20genotyping%20using%20next-generation%20DNA%20sequencing%20data&amp;journal=Nat%20Genet&amp;volume=43&amp;pages=491-8&amp;publication_year=2011&amp;author=DePristo%2CMA&amp;author=Banks%2CE&amp;author=Poplin%2CR&amp;author=Garimella%2CKV&amp;author=Maguire%2CJR&amp;author=Hartl%2CC&amp;author=Philippakis%2CAA&amp;author=Angel%2CG&amp;author=Rivas%2CMA&amp;author=Hanna%2CM\" target=\"_blank\"><br \/>\n                    Google Scholar<\/a>\u00a0\n                <\/p>\n<p class=\"c-article-references__text\" id=\"ref-CR41\">Van der Auwera GA, Carneiro MO, Hartl C, Poplin R, Del Angel G, Levy-Moonshine A, et al. From fastQ data to high confidence variant calls: the Genome Analysis Toolkit best practices pipeline. Curr Protoc Bioinformatics. 2013;43:11.10.11\u201311.10.33.<\/p>\n<p class=\"c-article-references__links u-hide-print\"><a data-track=\"click_references\" data-track-action=\"google scholar reference\" data-track-value=\"google scholar reference\" data-track-label=\"link\" data-track-item_id=\"link\" rel=\"nofollow noopener\" aria-label=\"Google Scholar reference 41\" href=\"http:\/\/scholar.google.com\/scholar_lookup?&amp;title=From%20fastQ%20data%20to%20high%20confidence%20variant%20calls%3A%20the%20Genome%20Analysis%20Toolkit%20best%20practices%20pipeline.&amp;journal=Curr%20Protoc%20Bioinformatics&amp;volume=43&amp;publication_year=2013&amp;author=Auwera%2CGA&amp;author=Carneiro%2CMO&amp;author=Hartl%2CC&amp;author=Poplin%2CR&amp;author=Del%20Angel%2CG&amp;author=Levy-Moonshine%2CA&amp;author=Jordan%2CT&amp;author=Shakir%2CK&amp;author=Roazen%2CD&amp;author=Thibault%2CJ\" target=\"_blank\"><br \/>\n                    Google Scholar<\/a>\u00a0\n                <\/p>\n<p class=\"c-article-references__text\" id=\"ref-CR42\">Danecek P, Auton A, Abecasis G, Albers CA, Banks E, DePristo MA, Handsaker RE, Lunter G, Marth GT, Sherry ST, et al. The variant call format and vcftools. Bioinformatics. 2011;27:2156\u20138.<\/p>\n<p class=\"c-article-references__links u-hide-print\"><a data-track=\"click_references\" data-track-action=\"google scholar reference\" data-track-value=\"google scholar reference\" data-track-label=\"link\" data-track-item_id=\"link\" rel=\"nofollow noopener\" aria-label=\"Google Scholar reference 42\" href=\"http:\/\/scholar.google.com\/scholar_lookup?&amp;title=The%20variant%20call%20format%20and%20vcftools&amp;journal=Bioinformatics&amp;volume=27&amp;pages=2156-8&amp;publication_year=2011&amp;author=Danecek%2CP&amp;author=Auton%2CA&amp;author=Abecasis%2CG&amp;author=Albers%2CCA&amp;author=Banks%2CE&amp;author=DePristo%2CMA&amp;author=Handsaker%2CRE&amp;author=Lunter%2CG&amp;author=Marth%2CGT&amp;author=Sherry%2CST\" target=\"_blank\"><br \/>\n                    Google Scholar<\/a>\u00a0\n                <\/p>\n<p class=\"c-article-references__text\" id=\"ref-CR43\">Loh P-R, Danecek P, Palamara PF, Fuchsberger C, Reshef YA, Finucane HK, Schoenherr S, Forer L, McCarthy S, Abecasis GR, et al. Reference-based phasing using the haplotype reference consortium panel. Nat Genet. 2016;48:1443\u20138.<\/p>\n<p class=\"c-article-references__links u-hide-print\"><a data-track=\"click_references\" data-track-action=\"google scholar reference\" data-track-value=\"google scholar reference\" data-track-label=\"link\" data-track-item_id=\"link\" rel=\"nofollow noopener\" aria-label=\"Google Scholar reference 43\" href=\"http:\/\/scholar.google.com\/scholar_lookup?&amp;title=Reference-based%20phasing%20using%20the%20haplotype%20reference%20consortium%20panel&amp;journal=Nat%20Genet&amp;volume=48&amp;pages=1443-8&amp;publication_year=2016&amp;author=Loh%2CP-R&amp;author=Danecek%2CP&amp;author=Palamara%2CPF&amp;author=Fuchsberger%2CC&amp;author=Reshef%2CYA&amp;author=FH%2CK&amp;author=Schoenherr%2CS&amp;author=Forer%2CL&amp;author=McCarthy%2CS&amp;author=Abecasis%2CGR\" target=\"_blank\"><br \/>\n                    Google Scholar<\/a>\u00a0\n                <\/p>\n<p class=\"c-article-references__text\" id=\"ref-CR44\">Das S, Forer L, Sch\u00f6nherr S, Sidore C, Locke AE, Kwong A, Vrieze SI, Chew EY, Levy S, McGue M, et al. Next-generation genotype imputation service and methods. Nat Genet. 2016;48:1284\u20137.<\/p>\n<p class=\"c-article-references__links u-hide-print\"><a data-track=\"click_references\" data-track-action=\"google scholar reference\" data-track-value=\"google scholar reference\" data-track-label=\"link\" data-track-item_id=\"link\" rel=\"nofollow noopener\" aria-label=\"Google Scholar reference 44\" href=\"http:\/\/scholar.google.com\/scholar_lookup?&amp;title=Next-generation%20genotype%20imputation%20service%20and%20methods&amp;journal=Nat%20Genet&amp;volume=48&amp;pages=1284-7&amp;publication_year=2016&amp;author=Das%2CS&amp;author=Forer%2CL&amp;author=Sch%C3%B6nherr%2CS&amp;author=Sidore%2CC&amp;author=Locke%2CAE&amp;author=Kwong%2CA&amp;author=Vrieze%2CSI&amp;author=Chew%2CEY&amp;author=Levy%2CS&amp;author=McGue%2CM\" target=\"_blank\"><br \/>\n                    Google Scholar<\/a>\u00a0\n                <\/p>\n<p class=\"c-article-references__text\" id=\"ref-CR45\">Taliun D, Harris DN, Kessler MD, Carlson J, Szpiech ZA, Torres R, Taliun SAG, Corvelo A, Gogarten SM, Kang HM, et al. Sequencing of 53,831 diverse genomes from the NHLBI TOPMed program. Nature. 2021;590:290\u20139.<\/p>\n<p class=\"c-article-references__links u-hide-print\"><a data-track=\"click_references\" data-track-action=\"google scholar reference\" data-track-value=\"google scholar reference\" data-track-label=\"link\" data-track-item_id=\"link\" rel=\"nofollow noopener\" aria-label=\"Google Scholar reference 45\" href=\"http:\/\/scholar.google.com\/scholar_lookup?&amp;title=Sequencing%20of%2053%2C831%20diverse%20genomes%20from%20the%20NHLBI%20topmed%20program&amp;journal=Nature&amp;volume=590&amp;pages=290-9&amp;publication_year=2021&amp;author=Taliun%2CD&amp;author=Harris%2CDN&amp;author=Kessler%2CMD&amp;author=Carlson%2CJ&amp;author=Szpiech%2CZA&amp;author=Torres%2CR&amp;author=Taliun%2CSAG&amp;author=Corvelo%2CA&amp;author=Gogarten%2CSM&amp;author=Kang%2CHM\" target=\"_blank\"><br \/>\n                    Google Scholar<\/a>\u00a0\n                <\/p>\n<p class=\"c-article-references__text\" id=\"ref-CR46\">Castel SE, Levy-Moonshine A, Mohammadi P, Banks E, Lappalainen T. Tools and best practices for data processing in allelic expression analysis. Genome Biol. 2015;16:195.<\/p>\n<p class=\"c-article-references__links u-hide-print\"><a data-track=\"click_references\" data-track-action=\"google scholar reference\" data-track-value=\"google scholar reference\" data-track-label=\"link\" data-track-item_id=\"link\" rel=\"nofollow noopener\" aria-label=\"Google Scholar reference 46\" href=\"http:\/\/scholar.google.com\/scholar_lookup?&amp;title=Tools%20and%20best%20practices%20for%20data%20processing%20in%20allelic%20expression%20analysis&amp;journal=Genome%20Biol&amp;volume=16&amp;publication_year=2015&amp;author=Castel%2CSE&amp;author=Levy-Moonshine%2CA&amp;author=Mohammadi%2CP&amp;author=Banks%2CE&amp;author=Lappalainen%2CT\" target=\"_blank\"><br \/>\n                    Google Scholar<\/a>\u00a0\n                <\/p>\n<p class=\"c-article-references__text\" id=\"ref-CR47\">Chen S. Ultrafast one-pass FASTQ data preprocessing, quality control, and deduplication using Fastp. iMeta. 2023;2:e107.<\/p>\n<p class=\"c-article-references__links u-hide-print\"><a data-track=\"click_references\" data-track-action=\"google scholar reference\" data-track-value=\"google scholar reference\" data-track-label=\"link\" data-track-item_id=\"link\" rel=\"nofollow noopener\" aria-label=\"Google Scholar reference 47\" href=\"http:\/\/scholar.google.com\/scholar_lookup?&amp;title=Ultrafast%20one-pass%20FASTQ%20data%20preprocessing%2C%20quality%20control%2C%20and%20deduplication%20using%20Fastp&amp;journal=iMeta&amp;volume=2&amp;publication_year=2023&amp;author=Chen%2CS\" target=\"_blank\"><br \/>\n                    Google Scholar<\/a>\u00a0\n                <\/p>\n<p class=\"c-article-references__text\" id=\"ref-CR48\">Dobin A, Davis CA, Schlesinger F, Drenkow J, Zaleski C, Jha S, Batut P, Chaisson M, Gingeras TR. STAR: ultrafast universal RNA-seq aligner. Bioinformatics. 2013;29:15\u201321.<\/p>\n<p class=\"c-article-references__links u-hide-print\"><a data-track=\"click_references\" data-track-action=\"google scholar reference\" data-track-value=\"google scholar reference\" data-track-label=\"link\" data-track-item_id=\"link\" rel=\"nofollow noopener\" aria-label=\"Google Scholar reference 48\" href=\"http:\/\/scholar.google.com\/scholar_lookup?&amp;title=STAR%3A%20ultrafast%20universal%20RNA-seq%20aligner&amp;journal=Bioinformatics&amp;volume=29&amp;pages=15-21&amp;publication_year=2013&amp;author=Dobin%2CA&amp;author=Davis%2CCA&amp;author=Schlesinger%2CF&amp;author=Drenkow%2CJ&amp;author=Zaleski%2CC&amp;author=Jha%2CS&amp;author=Batut%2CP&amp;author=Chaisson%2CM&amp;author=Gingeras%2CTR\" target=\"_blank\"><br \/>\n                    Google Scholar<\/a>\u00a0\n                <\/p>\n<p class=\"c-article-references__text\" id=\"ref-CR49\">Pinto BJ, O\u2019Connor B, Schatz MC, Zarate S, Wilson MA. Concerning the eXclusion in human genomics: the choice of sex chromosome representation in the human genome drastically affects the number of identified variants. G3 (Bethesda). 2023;13:jkad169.<\/p>\n<p class=\"c-article-references__links u-hide-print\"><a data-track=\"click_references\" data-track-action=\"google scholar reference\" data-track-value=\"google scholar reference\" data-track-label=\"link\" data-track-item_id=\"link\" rel=\"nofollow noopener\" aria-label=\"Google Scholar reference 49\" href=\"http:\/\/scholar.google.com\/scholar_lookup?&amp;title=Concerning%20the%20eXclusion%20in%20human%20genomics%3A%20the%20choice%20of%20sex%20chromosome%20representation%20in%20the%20human%20genome%20drastically%20affects%20the%20number%20of%20identified%20variants&amp;journal=G3%20%28Bethesda%29&amp;volume=13&amp;publication_year=2023&amp;author=Pinto%2CBJ&amp;author=O%E2%80%99Connor%2CB&amp;author=Schatz%2CMC&amp;author=Zarate%2CS&amp;author=Wilson%2CMA\" target=\"_blank\"><br \/>\n                    Google Scholar<\/a>\u00a0\n                <\/p>\n<p class=\"c-article-references__text\" id=\"ref-CR50\">van de Geijn B, McVicker G, Gilad Y, Pritchard JK. WASP: allele-specific software for robust molecular quantitative trait locus discovery. Nat Methods. 2015;12:1061\u20133.<\/p>\n<p class=\"c-article-references__links u-hide-print\"><a data-track=\"click_references\" data-track-action=\"google scholar reference\" data-track-value=\"google scholar reference\" data-track-label=\"link\" data-track-item_id=\"link\" rel=\"nofollow noopener\" aria-label=\"Google Scholar reference 50\" href=\"http:\/\/scholar.google.com\/scholar_lookup?&amp;title=WASP%3A%20allele-specific%20software%20for%20robust%20molecular%20quantitative%20trait%20locus%20discovery&amp;journal=Nat%20Methods&amp;volume=12&amp;pages=1061-3&amp;publication_year=2015&amp;author=Geijn%2CB&amp;author=McVicker%2CG&amp;author=Gilad%2CY&amp;author=Pritchard%2CJK\" target=\"_blank\"><br \/>\n                    Google Scholar<\/a>\u00a0\n                <\/p>\n<p class=\"c-article-references__text\" id=\"ref-CR51\">Danecek P, Bonfield JK, Liddle J, Marshall J, Ohan V, Pollard MO, Whitwham A, Keane T, McCarthy SA, Davies RM, Li H. Twelve years of samtools and BCFtools. Gigascience. 2021;10:giab008.<\/p>\n<p class=\"c-article-references__links u-hide-print\"><a data-track=\"click_references\" data-track-action=\"google scholar reference\" data-track-value=\"google scholar reference\" data-track-label=\"link\" data-track-item_id=\"link\" rel=\"nofollow noopener\" aria-label=\"Google Scholar reference 51\" href=\"http:\/\/scholar.google.com\/scholar_lookup?&amp;title=Twelve%20years%20of%20samtools%20and%20BCFtools&amp;journal=Gigascience&amp;volume=10&amp;publication_year=2021&amp;author=Danecek%2CP&amp;author=Bonfield%2CJK&amp;author=Liddle%2CJ&amp;author=Marshall%2CJ&amp;author=Ohan%2CV&amp;author=Pollard%2CMO&amp;author=Whitwham%2CA&amp;author=Keane%2CT&amp;author=McCarthy%2CSA&amp;author=Davies%2CRM&amp;author=Li%2CH\" target=\"_blank\"><br \/>\n                    Google Scholar<\/a>\u00a0\n                <\/p>\n<p class=\"c-article-references__text\" id=\"ref-CR52\">Sauteraud R, Stahl JM, James J, Englebright M, Chen F, Zhan X, et al. Inferring genes that escape X-chromosome inactivation reveals important contribution of variable escape genes to sex-biased diseases. Genome Res. 2021;31:1629\u201337.<\/p>\n<p class=\"c-article-references__links u-hide-print\"><a data-track=\"click_references\" data-track-action=\"google scholar reference\" data-track-value=\"google scholar reference\" data-track-label=\"link\" data-track-item_id=\"link\" rel=\"nofollow noopener\" aria-label=\"Google Scholar reference 52\" href=\"http:\/\/scholar.google.com\/scholar_lookup?&amp;title=Inferring%20genes%20that%20escape%20X-chromosome%20inactivation%20reveals%20important%20contribution%20of%20variable%20escape%20genes%20to%20sex-biased%20diseases&amp;journal=Genome%20Res&amp;volume=31&amp;pages=1629-37&amp;publication_year=2021&amp;author=Sauteraud%2CR&amp;author=Stahl%2CJM&amp;author=James%2CJ&amp;author=Englebright%2CM&amp;author=Chen%2CF&amp;author=Zhan%2CX&amp;author=Carrel%2CL&amp;author=Liu%2CDJ\" target=\"_blank\"><br \/>\n                    Google Scholar<\/a>\u00a0\n                <\/p>\n<p class=\"c-article-references__text\" id=\"ref-CR53\">Mi H, Muruganujan A, Huang X, Ebert D, Mills C, Guo X, Thomas PD. Protocol update for large-scale genome and gene function analysis with the PANTHER classification system (v.14.0). Nat Protoc. 2019;14:703\u201321.<\/p>\n<p class=\"c-article-references__links u-hide-print\"><a data-track=\"click_references\" data-track-action=\"google scholar reference\" data-track-value=\"google scholar reference\" data-track-label=\"link\" data-track-item_id=\"link\" rel=\"nofollow noopener\" aria-label=\"Google Scholar reference 53\" href=\"http:\/\/scholar.google.com\/scholar_lookup?&amp;title=Protocol%20update%20for%20large-scale%20genome%20and%20gene%20function%20analysis%20with%20the%20PANTHER%20classification%20system%20%28v.14.0%29&amp;journal=Nat%20Protoc&amp;volume=14&amp;pages=703-21&amp;publication_year=2019&amp;author=Mi%2CH&amp;author=Muruganujan%2CA&amp;author=Huang%2CX&amp;author=Ebert%2CD&amp;author=Mills%2CC&amp;author=Guo%2CX&amp;author=Thomas%2CPD\" target=\"_blank\"><br \/>\n                    Google Scholar<\/a>\u00a0\n                <\/p>\n<p class=\"c-article-references__text\" id=\"ref-CR54\">Thomas PD, Ebert D, Muruganujan A, Mushayahama T, Albou L-P, Mi H. PANTHER: making genome-scale phylogenetics accessible to all. Protein Sci. 2022;31:8\u201322.<\/p>\n<p class=\"c-article-references__links u-hide-print\"><a data-track=\"click_references\" data-track-action=\"google scholar reference\" data-track-value=\"google scholar reference\" data-track-label=\"link\" data-track-item_id=\"link\" rel=\"nofollow noopener\" aria-label=\"Google Scholar reference 54\" href=\"http:\/\/scholar.google.com\/scholar_lookup?&amp;title=PANTHER%3A%20making%20genome-scale%20phylogenetics%20accessible%20to%20all&amp;journal=Protein%20Sci&amp;volume=31&amp;pages=8-22&amp;publication_year=2022&amp;author=Thomas%2CPD&amp;author=Ebert%2CD&amp;author=Muruganujan%2CA&amp;author=Mushayahama%2CT&amp;author=Albou%2CL-P&amp;author=Mi%2CH\" target=\"_blank\"><br \/>\n                    Google Scholar<\/a>\u00a0\n                <\/p>\n<p class=\"c-article-references__text\" id=\"ref-CR55\">Phung TN, Olney KC, Pinto BJ, Silasi M, Perley L, O\u2019Bryan J, Kliman HJ, Wilson MA. X chromosome inactivation in the human placenta is patchy and distinct from adult tissues. HGG Adv. 2022;3:100121.<\/p>\n<p class=\"c-article-references__links u-hide-print\"><a data-track=\"click_references\" data-track-action=\"google scholar reference\" data-track-value=\"google scholar reference\" data-track-label=\"link\" data-track-item_id=\"link\" rel=\"nofollow noopener\" aria-label=\"Google Scholar reference 55\" href=\"http:\/\/scholar.google.com\/scholar_lookup?&amp;title=X%20chromosome%20inactivation%20in%20the%20human%20placenta%20is%20patchy%20and%20distinct%20from%20adult%20tissues&amp;journal=HGG%20Adv&amp;volume=3&amp;publication_year=2022&amp;author=Phung%2CTN&amp;author=Olney%2CKC&amp;author=Pinto%2CBJ&amp;author=Silasi%2CM&amp;author=Perley%2CL&amp;author=O%E2%80%99Bryan%2CJ&amp;author=Kliman%2CHJ&amp;author=Wilson%2CMA\" target=\"_blank\"><br \/>\n                    Google Scholar<\/a>\u00a0\n                <\/p>\n<p class=\"c-article-references__text\" id=\"ref-CR56\">Loda A, Collombet S, Heard E. Gene regulation in time and space during X-chromosome inactivation. Nat Rev Mol Cell Biol. 2022;23:231\u201349.<\/p>\n<p class=\"c-article-references__links u-hide-print\"><a data-track=\"click_references\" data-track-action=\"google scholar reference\" data-track-value=\"google scholar reference\" data-track-label=\"link\" data-track-item_id=\"link\" rel=\"nofollow noopener\" aria-label=\"Google Scholar reference 56\" href=\"http:\/\/scholar.google.com\/scholar_lookup?&amp;title=Gene%20regulation%20in%20time%20and%20space%20during%20X-chromosome%20inactivation&amp;journal=Nat%20Rev%20Mol%20Cell%20Biol&amp;volume=23&amp;pages=231-49&amp;publication_year=2022&amp;author=Loda%2CA&amp;author=Collombet%2CS&amp;author=Heard%2CE\" target=\"_blank\"><br \/>\n                    Google Scholar<\/a>\u00a0\n                <\/p>\n<p class=\"c-article-references__text\" id=\"ref-CR57\">Sarnowski C, Leong A, Raffield LM, Wu P, de Vries PS, DiCorpo D, Guo X, Xu H, Liu Y, Zheng X, et al. Impact of rare and common genetic variants on diabetes diagnosis by hemoglobin A1c in Multi-Ancestry cohorts: the Trans-Omics for Precision Medicine program. Am J Hum Genet. 2019;105:706\u201318.<\/p>\n<p class=\"c-article-references__links u-hide-print\"><a data-track=\"click_references\" data-track-action=\"google scholar reference\" data-track-value=\"google scholar reference\" data-track-label=\"link\" data-track-item_id=\"link\" rel=\"nofollow noopener\" aria-label=\"Google Scholar reference 57\" href=\"http:\/\/scholar.google.com\/scholar_lookup?&amp;title=Impact%20of%20rare%20and%20common%20genetic%20variants%20on%20diabetes%20diagnosis%20by%20hemoglobin%20A1c%20in%20Multi-Ancestry%20cohorts%3A%20the%20Trans-Omics%20for%20precision%20medicine%20program&amp;journal=Am%20J%20Hum%20Genet&amp;volume=105&amp;pages=706-18&amp;publication_year=2019&amp;author=Sarnowski%2CC&amp;author=Leong%2CA&amp;author=Raffield%2CLM&amp;author=Wu%2CP&amp;author=Vries%2CPS&amp;author=DiCorpo%2CD&amp;author=Guo%2CX&amp;author=Xu%2CH&amp;author=Liu%2CY&amp;author=Zheng%2CX\" target=\"_blank\"><br \/>\n                    Google Scholar<\/a>\u00a0\n                <\/p>\n<p class=\"c-article-references__text\" id=\"ref-CR58\">Vulliamy TJ, Othman A, Town M, Nathwani A, Falusi AG, Mason PJ, Luzzatto L. Polymorphic sites in the African population detected by sequence analysis of the glucose-6-phosphate dehydrogenase gene outline the evolution of the variants A and A-. Proc Natl Acad Sci U S A. 1991;88:8568\u201371.<\/p>\n<p class=\"c-article-references__links u-hide-print\"><a data-track=\"click_references\" data-track-action=\"google scholar reference\" data-track-value=\"google scholar reference\" data-track-label=\"link\" data-track-item_id=\"link\" rel=\"nofollow noopener\" aria-label=\"Google Scholar reference 58\" href=\"http:\/\/scholar.google.com\/scholar_lookup?&amp;title=Polymorphic%20sites%20in%20the%20African%20population%20detected%20by%20sequence%20analysis%20of%20the%20glucose-6-phosphate%20dehydrogenase%20gene%20outline%20the%20evolution%20of%20the%20variants%20A%20and%20A&amp;journal=Proc%20Natl%20Acad%20Sci%20U%20S%20A&amp;volume=88&amp;pages=8568-71&amp;publication_year=1991&amp;author=Vulliamy%2CTJ&amp;author=Othman%2CA&amp;author=Town%2CM&amp;author=Nathwani%2CA&amp;author=Falusi%2CAG&amp;author=Mason%2CPJ&amp;author=Luzzatto%2CL\" target=\"_blank\"><br \/>\n                    Google Scholar<\/a>\u00a0\n                <\/p>\n<p class=\"c-article-references__text\" id=\"ref-CR59\">Hirono A, Beutler E. Molecular cloning and nucleotide sequence of cDNA for human glucose-6-phosphate dehydrogenase variant A(-). Proc Natl Acad Sci U S A. 1988;85:3951\u20134.<\/p>\n<p class=\"c-article-references__links u-hide-print\"><a data-track=\"click_references\" data-track-action=\"google scholar reference\" data-track-value=\"google scholar reference\" data-track-label=\"link\" data-track-item_id=\"link\" rel=\"nofollow noopener\" aria-label=\"Google Scholar reference 59\" href=\"http:\/\/scholar.google.com\/scholar_lookup?&amp;title=Molecular%20cloning%20and%20nucleotide%20sequence%20of%20cDNA%20for%20human%20glucose-6-phosphate%20dehydrogenase%20variant%20A%28-%29&amp;journal=Proc%20Natl%20Acad%20Sci%20U%20S%20A&amp;volume=85&amp;pages=3951-4&amp;publication_year=1988&amp;author=Hirono%2CA&amp;author=Beutler%2CE\" target=\"_blank\"><br \/>\n                    Google Scholar<\/a>\u00a0\n                <\/p>\n<p class=\"c-article-references__text\" id=\"ref-CR60\">Tomofuji Y, Edahiro R, Sonehara K, Shirai Y, Kock KH, Wang QS, Namba S, Moody J, Ando Y, Suzuki A, et al. Quantification of escape from X chromosome inactivation with single-cell omics data reveals heterogeneity across cell types and tissues. Cell Genom. 2024;4:100625.<\/p>\n<p class=\"c-article-references__links u-hide-print\"><a data-track=\"click_references\" data-track-action=\"google scholar reference\" data-track-value=\"google scholar reference\" data-track-label=\"link\" data-track-item_id=\"link\" rel=\"nofollow noopener\" aria-label=\"Google Scholar reference 60\" href=\"http:\/\/scholar.google.com\/scholar_lookup?&amp;title=Quantification%20of%20escape%20from%20X%20chromosome%20inactivation%20with%20single-cell%20omics%20data%20reveals%20heterogeneity%20across%20cell%20types%20and%20tissues&amp;journal=Cell%20Genom&amp;volume=4&amp;publication_year=2024&amp;author=Tomofuji%2CY&amp;author=Edahiro%2CR&amp;author=Sonehara%2CK&amp;author=Shirai%2CY&amp;author=Kock%2CKH&amp;author=Wang%2CQS&amp;author=Namba%2CS&amp;author=Moody%2CJ&amp;author=Ando%2CY&amp;author=Suzuki%2CA\" target=\"_blank\"><br \/>\n                    Google Scholar<\/a>\u00a0\n                <\/p>\n<p class=\"c-article-references__text\" id=\"ref-CR61\">Posynick BJ, Brown CJ. Escape from X-chromosome inactivation: an evolutionary perspective. Front Cell Dev Biol. 2019;7:241.<\/p>\n<p class=\"c-article-references__links u-hide-print\"><a data-track=\"click_references\" data-track-action=\"google scholar reference\" data-track-value=\"google scholar reference\" data-track-label=\"link\" data-track-item_id=\"link\" rel=\"nofollow noopener\" aria-label=\"Google Scholar reference 61\" href=\"http:\/\/scholar.google.com\/scholar_lookup?&amp;title=Escape%20from%20X-chromosome%20inactivation%3A%20an%20evolutionary%20perspective&amp;journal=Front%20Cell%20Dev%20Biol&amp;volume=7&amp;publication_year=2019&amp;author=Posynick%2CBJ&amp;author=Brown%2CCJ\" target=\"_blank\"><br \/>\n                    Google Scholar<\/a>\u00a0\n                <\/p>\n<p class=\"c-article-references__text\" id=\"ref-CR62\">Wang J, Xiao Q-Z, Chen Y-M, Yi S, Liu D, Liu Y-H, et al. DNA hypermethylation and X chromosome inactivation are major determinants of phenotypic variation in women heterozygous for G6PD mutations. Blood Cells Mol Dis. 2014;53:241\u20135.<\/p>\n<p class=\"c-article-references__links u-hide-print\"><a data-track=\"click_references\" data-track-action=\"google scholar reference\" data-track-value=\"google scholar reference\" data-track-label=\"link\" data-track-item_id=\"link\" rel=\"nofollow noopener\" aria-label=\"Google Scholar reference 62\" href=\"http:\/\/scholar.google.com\/scholar_lookup?&amp;title=DNA%20hypermethylation%20and%20X%20chromosome%20inactivation%20are%20major%20determinants%20of%20phenotypic%20variation%20in%20women%20heterozygous%20forG6PDmutations.&amp;journal=Blood%20Cells%20Mol%20Dis&amp;volume=53&amp;pages=241-245&amp;publication_year=2014&amp;author=Wang%2CJ&amp;author=Xiao%2CQ-Z&amp;author=Chen%2CY-M&amp;author=Yi%2CS&amp;author=Liu%2CD&amp;author=Liu%2CY-H&amp;author=Zhang%2CC-M&amp;author=Wei%2CX-F&amp;author=Zhou%2CY-Q&amp;author=Zhong%2CX-M\" target=\"_blank\"><br \/>\n                    Google Scholar<\/a>\u00a0\n                <\/p>\n<p class=\"c-article-references__text\" id=\"ref-CR63\">Fu Y, Kenttamies A, Ruotsalainen S, Pirinen M, Tukiainen T. Role of X chromosome and dosage-compensation mechanisms in complex trait genetics. Am J Hum Genet. 2025;112:1330\u201343.<\/p>\n<p class=\"c-article-references__links u-hide-print\"><a data-track=\"click_references\" data-track-action=\"google scholar reference\" data-track-value=\"google scholar reference\" data-track-label=\"link\" data-track-item_id=\"link\" rel=\"nofollow noopener\" aria-label=\"Google Scholar reference 63\" href=\"http:\/\/scholar.google.com\/scholar_lookup?&amp;title=Role%20of%20X%20chromosome%20and%20dosage-compensation%20mechanisms%20in%20complex%20trait%20genetics&amp;journal=Am%20J%20Hum%20Genet&amp;volume=112&amp;pages=1330-43&amp;publication_year=2025&amp;author=Fu%2CY&amp;author=Kenttamies%2CA&amp;author=Ruotsalainen%2CS&amp;author=Pirinen%2CM&amp;author=Tukiainen%2CT\" target=\"_blank\"><br \/>\n                    Google Scholar<\/a>\u00a0\n                <\/p>\n<p class=\"c-article-references__text\" id=\"ref-CR64\">Johnston CM, Lovell FL, Leongamornlert DA, Stranger BE, Dermitzakis ET, Ross MT. Large-scale population study of human cell lines indicates that dosage compensation is virtually complete. PLoS Genet. 2008;4:e9.<\/p>\n<p class=\"c-article-references__links u-hide-print\"><a data-track=\"click_references\" data-track-action=\"google scholar reference\" data-track-value=\"google scholar reference\" data-track-label=\"link\" data-track-item_id=\"link\" rel=\"nofollow noopener\" aria-label=\"Google Scholar reference 64\" href=\"http:\/\/scholar.google.com\/scholar_lookup?&amp;title=Large-scale%20population%20study%20of%20human%20cell%20lines%20indicates%20that%20dosage%20compensation%20is%20virtually%20complete&amp;journal=PLoS%20Genet&amp;volume=4&amp;publication_year=2008&amp;author=Johnston%2CCM&amp;author=Lovell%2CFL&amp;author=Leongamornlert%2CDA&amp;author=Stranger%2CBE&amp;author=Dermitzakis%2CET&amp;author=Ross%2CMT\" target=\"_blank\"><br \/>\n                    Google Scholar<\/a>\u00a0\n                <\/p>\n","protected":false},"excerpt":{"rendered":"Lyon MF. Gene action in the X-chromosome of the mouse (Mus musculus L). Nature. 1961;190:372\u20133. Google Scholar\u00a0 Berletch&hellip;\n","protected":false},"author":2,"featured_media":130668,"comment_status":"","ping_status":"","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[7],"tags":[6691,100849,100850,22857,2483,2294,100851,6422,33664,8755,111,139,69,8754,6897,147],"class_list":{"0":"post-150972","1":"post","2":"type-post","3":"status-publish","4":"format-standard","5":"has-post-thumbnail","7":"category-science","8":"tag-animal-genetics-and-genomics","9":"tag-chromosome-x","10":"tag-dosage-compensation","11":"tag-escape","12":"tag-gene-expression","13":"tag-general","14":"tag-inactivation","15":"tag-life-sciences","16":"tag-microarrays","17":"tag-microbial-genetics-and-genomics","18":"tag-new-zealand","19":"tag-newzealand","20":"tag-nz","21":"tag-plant-genetics-and-genomics","22":"tag-proteomics","23":"tag-science"},"_links":{"self":[{"href":"https:\/\/www.newsbeep.com\/nz\/wp-json\/wp\/v2\/posts\/150972","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/www.newsbeep.com\/nz\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/www.newsbeep.com\/nz\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/www.newsbeep.com\/nz\/wp-json\/wp\/v2\/users\/2"}],"replies":[{"embeddable":true,"href":"https:\/\/www.newsbeep.com\/nz\/wp-json\/wp\/v2\/comments?post=150972"}],"version-history":[{"count":0,"href":"https:\/\/www.newsbeep.com\/nz\/wp-json\/wp\/v2\/posts\/150972\/revisions"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/www.newsbeep.com\/nz\/wp-json\/wp\/v2\/media\/130668"}],"wp:attachment":[{"href":"https:\/\/www.newsbeep.com\/nz\/wp-json\/wp\/v2\/media?parent=150972"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.newsbeep.com\/nz\/wp-json\/wp\/v2\/categories?post=150972"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.newsbeep.com\/nz\/wp-json\/wp\/v2\/tags?post=150972"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}