Article
Insights into genetics, human biology and disease gleaned from family based genomic studies.
Genetics in medicine : official journal of the American College of Medical Genetics - 1 Apr 2019
Posey Jennifer E, O'Donnell-Luria Anne H, Chong Jessica X, Harel Tamar, Jhangiani Shalini N, Coban Akdemir Zeynep H, Buyske Steven, Pehlivan Davut, Carvalho Claudia M B, Baxter Samantha, Sobreira Nara, Liu Pengfei, Wu Nan, Rosenfeld Jill A, Kumar Sushant, Avramopoulos Dimitri, White Janson J, Doheny Kimberly F, Witmer P Dane, Boehm Corinne, Sutton V Reid, Muzny Donna M, Boerwinkle Eric, Günel Murat, Nickerson Deborah A, Mane Shrikant, MacArthur Daniel G, Gibbs Richard A, Hamosh Ada, Lifton Richard P, Matise Tara C, Rehm Heidi L, Gerstein Mark, Bamshad Michael J, Valle David, Lupski James R
Abstract excerpt
Identifying genes and variants contributing to rare disease phenotypes and Mendelian conditions informs biology and medicine, yet potential phenotypic consequences for variation of >75% of the ~20,000 annotated genes in the human genome are lacking. Technical advances to assess rare variation genome-wide, particularly exome sequencing (ES), enabled establishment in the United States of the National Institutes of...
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