{"id":"W3029661147","doi":"10.1038/s41586-020-2308-7","title":"The mutational constraint spectrum quantified from variation in 141,456 humans","year":2020,"lang":"en","type":"article","venue":"Nature","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":10127,"is_retracted":false,"has_abstract":true,"ca_institutions":"Université de Montréal; Montreal Heart Institute; University of Ottawa","funders":"Common Fund; National Institute of Diabetes and Digestive and Kidney Diseases; National Institute of General Medical Sciences; National Institute on Aging; Sanofi Genzyme; National Institute of Mental Health; National Heart, Lung, and Blood Institute; National Institutes of Health; Schweizerischer Nationalfonds zur Förderung der Wissenschaftlichen Forschung; National Cancer Institute; British Heart Foundation; National Center for Advancing Translational Sciences; National Human Genome Research Institute; Wellcome Trust; Eunice Kennedy Shriver National Institute of Child Health and Human Development; Sanofi; Rosetrees Trust; BioMarin Pharmaceutical; National Science Foundation","keywords":"Gene; Genome; Biology; Computational biology; Annotation; Exome sequencing; Human genome; Genetics; Exome; Loss function; Phenotype; Function (biology); Mutation","routes":{"ca_aff":true,"ca_fund":false,"ca_venue":false,"about_ca":false,"invisible_to_affiliation_only":false},"retraction":null,"screen":null}