Article
The Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and Opportunities.
American journal of human genetics - 6 Aug 2015
Chong Jessica X, Buckingham Kati J, Jhangiani Shalini N, Boehm Corinne, Sobreira Nara, Smith Joshua D, Harrell Tanya M, McMillin Margaret J, Wiszniewski Wojciech, Gambin Tomasz, Coban Akdemir Zeynep H, Doheny Kimberly, Scott Alan F, Avramopoulos Dimitri, Chakravarti Aravinda, Hoover-Fong Julie, Mathews Debra, Witmer P Dane, Ling Hua, Hetrick Kurt, Watkins Lee, Patterson Karynne E, Reinier Frederic, Blue Elizabeth, Muzny Donna, Kircher Martin, Bilguvar Kaya, López-Giráldez Francesc, Sutton V Reid, Tabor Holly K, Leal Suzanne M, Gunel Murat, Mane Shrikant, Gibbs Richard A, Boerwinkle Eric, Hamosh Ada, Shendure Jay, Lupski James R, Lifton Richard P, Valle David, Nickerson Deborah A, Bamshad Michael J
Abstract excerpt
Discovering the genetic basis of a Mendelian phenotype establishes a causal link between genotype and phenotype, making possible carrier and population screening and direct diagnosis. Such discoveries also contribute to our knowledge of gene function, gene regulation, development, and biological mechanisms that can be used for developing new therapeutics. As of February 2015, 2,937 genes underlying 4,163...
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