Advances in haplotype phasing and genotype imputation
Voight, B. F., Kudaravalli, S., Wen, X. & Pritchard, J. K. A map of recent positive selection in…
Rapid epigenomic classification of acute leukemia
A comprehensive DNA methylation reference of acute leukemia We curated a comprehensive DNA methylation-based reference cohort from published…
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,…
Regulatory genome annotation | Nature Reviews Genetics
Gerstein, M. B. et al. Architecture of the human regulatory network derived from ENCODE data. Nature 489, 91–100…
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…
A novel MCMDC2 variant causes meiotic arrest and non-obstructive azoospermia in a consanguineous Chinese family
Cerván-Martín 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…
Tamoxifen induces PI3K activation in uterine cancer
Ethics statement This study complies with all relevant ethical regulations. TAMARISK specimens were obtained and sequenced with the…
A Japanese familial spastic paraplegia associated with a missense UBQLN2 variant
Statland JM, Barohn RJ, McVey AL, Katz JS, Dimachkie MM. Patterns of weakness, classification of motor neuron disease,…