Article
Centers for Mendelian Genomics: A decade of facilitating gene discovery.
Genetics in medicine : official journal of the American College of Medical Genetics - 1 Apr 2022
Baxter Samantha M, Posey Jennifer E, Lake Nicole J, Sobreira Nara, Chong Jessica X, Buyske Steven, Blue Elizabeth E, Chadwick Lisa H, Coban-Akdemir Zeynep H, Doheny Kimberly F, Davis Colleen P, Lek Monkol, Wellington Christopher, Jhangiani Shalini N, Gerstein Mark, Gibbs Richard A, Lifton Richard P, MacArthur Daniel G, Matise Tara C, Lupski James R, Valle David, Bamshad Michael J, Hamosh Ada, Mane Shrikant, Nickerson Deborah A, Rehm Heidi L, O'Donnell-Luria Anne
Abstract excerpt
PURPOSE: Mendelian disease genomic research has undergone a massive transformation over the past decade. With increasing availability of exome and genome sequencing, the role of Mendelian research has expanded beyond data collection, sequencing, and analysis to worldwide data sharing and collaboration. METHODS: Over the past 10 years, the National Institutes of Health-supported Centers for Mendelian Genomics...
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