Genetic regulation of gene expression across multiple tissues in chickens
Hillier, L. W. & Miller, W. Sequence and comparative analysis of the chicken genome provide unique perspectives on…
Report of a missense TJP2 variant associated to PFIC4 with a pronounced phenotypic variability: Focus on the structural effects on the protein level
Amer S, Hajira A. A comprehensive review of progressive familial intrahepatic cholestasis (PFIC): genetic disorders of hepatocanalicular transporters.…
The landscape of N6-methyladenosine in localized primary prostate cancer
The m6A landscape of localized prostate cancer We quantified the epitranscriptomes of 162 primary localized prostate tumors using…
Mapping genetic diversity with the GenomeIndia project – Nature
Mapping genetic diversity with the GenomeIndia project Nature A unique genome database of 10,000 ‘healthy’ Indians is ready for…
Longitudinal single-cell multiomic atlas of high-risk neuroblastoma reveals chemotherapy-induced tumor microenvironment rewiring
Single-cell longitudinal profiling reveals microenvironmental shifts We profiled neuroblastoma samples from 22 patients with high-risk neuroblastoma obtained through…
Leveraging genetics to understand ADAR1-mediated RNA editing in health and disease
Crick, F. Molecular biology in the year 2000. Nature 228, 613–615 (1970). Article CAS PubMed Google Scholar Crick,…
Genome-wide analyses identify 25 infertility loci and relationships with reproductive traits across the allele frequency spectrum
Genome-wide meta-analyses identify new loci for infertility We identified female infertility of all causes (F-ALL), anatomical causes (F-ANAT),…
Sequencing in over 50,000 cases identifies coding and structural variation underlying atrial fibrillation risk
Cardiovascular Disease Initiative, Broad Institute of MIT and Harvard, Cambridge, MA, USA Seung Hoan Choi, Sean J. Jurgens, Ling Xiao, Matthew…
The genetic basis of human height
Tanner, J. M. A History of the Study of Human Growth (Cambridge Univ. Press, 1981). Galton, F. Regression…
Common-variant and rare-variant genetic architecture of heart failure across the allele-frequency spectrum
Ziaeian, B. & Fonarow, G. C. Epidemiology and aetiology of heart failure. Nat. Rev. Cardiol. 13, 368–378 (2016).…