Article
Challenges and solutions for gene identification in the presence of familial locus heterogeneity.
European journal of human genetics : EJHG - 1 Sept 2015
Rehman Atteeq U, Santos-Cortez Regie Lyn P, Drummond Meghan C, Shahzad Mohsin, Lee Kwanghyuk, Morell Robert J, Ansar Muhammad, Jan Abid, Wang Xin, Aziz Abdul, Riazuddin Saima, Smith Joshua D, Wang Gao T, Ahmed Zubair M, Gul Khitab, Shearer A Eliot, Smith Richard J H, Shendure Jay, Bamshad Michael J, Nickerson Deborah A, Hinnant John, Khan Shaheen N, Fisher Rachel A, Ahmad Wasim, Friderici Karen H, Riazuddin Sheikh, Friedman Thomas B, Wilch Ellen S, Leal Suzanne M
Abstract excerpt
Next-generation sequencing (NGS) of exomes and genomes has accelerated the identification of genes involved in Mendelian phenotypes. However, many NGS studies fall short of identifying causal variants, with estimates for success rates as low as 25% for uncovering the pathological variant underlying disease etiology. An important reason for such failures is familial locus heterogeneity, where within a single...
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