Pan-UK Biobank genome-wide association analyses enhance discovery and resolution of ancestry-enriched effects
Abul-Husn, N. S. & Kenny, E. E. Personalized medicine and the power of electronic health records. Cell 177,…
Diversity challenges and reconciles genetics in facioscapulohumeral muscular dystrophy
Wang LH, Tawil R. Facioscapulohumeral dystrophy. Curr Neurol Neurosci Rep. 2016;16:66. Article PubMed Google Scholar Mul K, Lassche…
Non-CG DNA methylation in animal genomes
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Genetic variants affecting RNA stability influence complex traits and disease risk
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+)
Capone VP, Morello W, Taroni F, Montini G. Genetics of congenital anomalies of the kidney and urinary tract:…
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…
MYH2-associated myopathy caused by novel compound heterozygous mutations: a case report and literature review
Morales PN, Coons AN, Koopman AJ, Patel S, Chase PB, Parvatiyar MS, et al. Post-translational modifications of vertebrate…