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Browsing Tag

Biomedicine

79 posts
GGenetics
Further phenotypical delineation of DLG3-related neurodevelopmental disorders
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Further phenotypical delineation of DLG3-related neurodevelopmental disorders

  • September 22, 2025
Elias GM, Elias LAB, Apostolides PF, Kriegstein AR, Nicoll RA. Differential trafficking of AMPA and NMDA receptors by…
GGenetics
A genomic view of Earth’s biomes
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A genomic view of Earth’s biomes

  • September 22, 2025
Giovannoni, S., Britschgi, T., Moyer, C. & Field, K. Genetic diversity in Sargasso sea bacterioplankton. Nature 345, 60–63…
GGenetics
Is enhancer-driven gene regulation all wrapped up?
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Is enhancer-driven gene regulation all wrapped up?

  • September 21, 2025
Symmons, O. et al. The Shh topological domain facilitates the action of remote enhancers by reducing the effects…
GGenetics
Regulatory genome annotation | Nature Reviews Genetics
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Regulatory genome annotation | Nature Reviews Genetics

  • September 21, 2025
Gerstein, M. B. et al. Architecture of the human regulatory network derived from ENCODE data. Nature 489, 91–100…
GGenetics
Pan-UK Biobank genome-wide association analyses enhance discovery and resolution of ancestry-enriched effects
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Pan-UK Biobank genome-wide association analyses enhance discovery and resolution of ancestry-enriched effects

  • September 18, 2025
Abul-Husn, N. S. & Kenny, E. E. Personalized medicine and the power of electronic health records. Cell 177,…
GGenetics
Non-CG DNA methylation in animal genomes
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Non-CG DNA methylation in animal genomes

  • September 14, 2025
Schubeler, D. Function and information content of DNA methylation. Nature 517, 321–326 (2015). Article  CAS  PubMed  Google Scholar …
GGenetics
Genetic variants affecting RNA stability influence complex traits and disease risk
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Genetic variants affecting RNA stability influence complex traits and disease risk

  • September 12, 2025
Ethics This research study did not require approval from any specific ethics board/committee. CNV removal We obtained absolute…
GGenetics
Unravelling the genetics and epigenetics of the ageing tumour microenvironment in cancer
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Unravelling the genetics and epigenetics of the ageing tumour microenvironment in cancer

  • September 8, 2025
de Magalhaes, J. P. How ageing processes influence cancer. Nat. Rev. Cancer 13, 357–365 (2013). Article  PubMed  Google…
GGenetics
Feasibility and clinical utility of expanded genomic newborn screening in the Early Check program
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Feasibility and clinical utility of expanded genomic newborn screening in the Early Check program

  • September 7, 2025
Enrollment rates Between 28 September 2023 and 10 June 2024 (~8.5 months), a total of 2,125 newborns were enrolled.…
GGenetics
Clinical exome sequencing efficacy and phenotypic expansions involving non-isolated congenital anomalies of kidney and urinary tract (CAKUT+)
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Clinical exome sequencing efficacy and phenotypic expansions involving non-isolated congenital anomalies of kidney and urinary tract (CAKUT+)

  • September 6, 2025
Capone VP, Morello W, Taroni F, Montini G. Genetics of congenital anomalies of the kidney and urinary tract:…
GGenetics
Improving broad-spectrum resistance to clubroot disease with one gene
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Improving broad-spectrum resistance to clubroot disease with one gene

  • September 5, 2025
Publisher’s note Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations. This…
GGenetics
A multi-tissue single-cell expression atlas in cattle
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A multi-tissue single-cell expression atlas in cattle

  • September 5, 2025
The scope of CattleCA After removing low-quality cells and doublets (Methods, Supplementary Fig. 1 and Supplementary Tables 1…
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