Regulatory genome annotation | Nature Reviews Genetics
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Pan-UK Biobank genome-wide association analyses enhance discovery and resolution of ancestry-enriched effects
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Diversity challenges and reconciles genetics in facioscapulohumeral muscular dystrophy
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Ethics This research study did not require approval from any specific ethics board/committee. CNV removal We obtained absolute…
Clinical exome sequencing efficacy and phenotypic expansions involving non-isolated congenital anomalies of kidney and urinary tract (CAKUT+)
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Improving broad-spectrum resistance to clubroot disease with one gene
Publisher’s note Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations. This…
A multi-tissue single-cell expression atlas in cattle
The scope of CattleCA After removing low-quality cells and doublets (Methods, Supplementary Fig. 1 and Supplementary Tables 1…
Molecular genetics and therapeutic development for GNE myopathy
Yoshioka W, Noguchi S, Mori-Yoshimura M, Nishino I. Advances in understanding of the natural history, mechanism, extra-muscular manifestations…
DNA methylation influences human centromere positioning and function
This study complied with all relevant local ethical regulations. Approval for the use of ICF patients’ fibroblasts was…
A novel MCMDC2 variant causes meiotic arrest and non-obstructive azoospermia in a consanguineous Chinese family
Cerván-MartÃn M, Castilla JA, Palomino-Morales RJ, Carmona FD. Genetic landscape of nonobstructive azoospermia and new perspectives for the…
Chromatin dynamics of a large-sized genome provides insights into polyphenism and X0 dosage compensation of locusts
Chromosome-level assembly of the migratory locust We conducted genome sequencing on an adult female locust with a heterozygosity…