Genome Aggregation Database (gnomAD)
A reference catalogue of human genetic variation, aggregating and harmonizing exome and genome sequencing data from large-scale sequencing projects to provide population allele frequencies and gene-level constraint metrics.
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Laricchia", "Andrea Ganna", "Daniel P. Birnbaum", "Laura D. Gauthier", "Harrison Brand", "Matthew Solomonson", "Nicholas A. Watts", "Daniel Rhodes", "Moriel Singer-Berk", "Eleina M. England", "Eleanor G. Seaby", "Jack A. Kosmicki", "Raymond K. Walters", "Katherine Tashman", "Yossi Farjoun", "Eric Banks", "Timothy Poterba", "Arcturus Wang", "Cotton Seed", "Nicola Whiffin", "Jessica X. Chong", "Kaitlin E. Samocha", "Emma Pierce-Hoffman", "Zachary Zappala", "Anne H. O\u2019Donnell-Luria", "Eric Vallabh Minikel", "Ben Weisburd", "Monkol Lek", "James S. Ware", "Christopher Vittal", "Irina M. Armean", "Louis Bergelson", "Kristian Cibulskis", "Kristen M. Connolly", "Miguel Covarrubias", "Stacey Donnelly", "Steven Ferriera", "Stacey Gabriel", "Jeff Gentry", "Namrata Gupta", "Thibault Jeandet", "Diane Kaplan", "Christopher Llanwarne", "Ruchi Munshi", "Sam Novod", "Nikelle Petrillo", "David Roazen", "Valentin Ruano-Rubio", "Andrea Saltzman", "Molly Schleicher", "Jose Soto", "Kathleen Tibbetts", "Charlotte Tolonen", "Gordon Wade", "Michael E. Talkowski", "Carlos A. Aguilar Salinas", "Tariq Ahmad", "Christine M. Albert", "Diego Ardissino", "Gil Atzmon", "John Barnard", "Laurent Beaugerie", "Emelia J. Benjamin", "Michael Boehnke", "Lori L. Bonnycastle", "Erwin P. Bottinger", "Donald W. Bowden", "Matthew J. Bown", "John C. Chambers", "Juliana C. Chan", "Daniel Chasman", "Judy Cho", "Mina K. Chung", "Bruce Cohen", "Adolfo Correa", "Dana Dabelea", "Mark J. Daly", "Dawood Darbar", "Ravindranath Duggirala", "Jos\u00e9e Dupuis", "Patrick T. Ellinor", "Roberto Elosua", "Jeanette Erdmann", "T\u00f5nu Esko", "Martti F\u00e4rkkil\u00e4", "Jose Florez", "Andre Franke", "Gad Getz", "Benjamin Glaser", "Stephen J. Glatt", "David Goldstein", "Clicerio Gonzalez", "Leif Groop", "Christopher Haiman", "Craig Hanis", "Matthew Harms", "Mikko Hiltunen", "Matti M. Holi", "Christina M. Hultman", "Mikko Kallela", "Jaakko Kaprio", "Sekar Kathiresan", "Bong-Jo Kim", "Young Jin Kim", "George Kirov", "Jaspal Kooner", "Seppo Koskinen", "Harlan M. Krumholz", "Subra Kugathasan", "Soo Heon Kwak", "Markku Laakso", "Terho Lehtim\u00e4ki", "Ruth J. F. Loos", "Steven A. Lubitz", "Ronald C. W. Ma", "Daniel G. MacArthur", "Jaume Marrugat", "Kari M. Mattila", "Steven McCarroll", "Mark I. McCarthy", "Dermot McGovern", "Ruth McPherson", "James B. Meigs", "Olle Melander", "Andres Metspalu", "Benjamin M. Neale", "Peter M. Nilsson", "Michael C. O\u2019Donovan", "Dost Ongur", "Lorena Orozco", "Michael J. Owen", "Colin N. A. Palmer", "Aarno Palotie", "Kyong Soo Park", "Carlos Pato", "Ann E. Pulver", "Nazneen Rahman", "Anne M. Remes", "John D. Rioux", "Samuli Ripatti", "Dan M. Roden", "Danish Saleheen", "Veikko Salomaa", "Nilesh J. Samani", "Jeremiah Scharf", "Heribert Schunkert", "Moore B. Shoemaker", "Pamela Sklar", "Hilkka Soininen", "Harry Sokol", "Tim Spector", "Patrick F. Sullivan", "Jaana Suvisaari", "E. Shyong Tai", "Yik Ying Teo", "Tuomi Tiinamaija", "Ming Tsuang", "Dan Turner", "Teresa Tusie-Luna", "Erkki Vartiainen", "Marquis P. Vawter", "James S. Ware", "Hugh Watkins", "Rinse K. Weersma", "Maija Wessman", "James G. Wilson", "Ramnik J. Xavier", "Benjamin M. Neale", "Mark J. Daly", "Daniel G. MacArthur"], "doi": "doi:10.1038/s41586-020-2308-7", "id": "https://doi.org/10.1038/s41586-020-2308-7", "journal": "Nature", "preferred": true, "title": "The mutational constraint spectrum quantified from variation in 141,456 humans", "year": "2020"}], "synonyms": ["gnomAD"], "taxon": ["NCBITaxon:9606"], "version": "4.1.1"}