Article
Phased whole-genome genetic risk in a family quartet using a major allele reference sequence.
PLoS genetics - 1 Sept 2011
Dewey Frederick E, Chen Rong, Cordero Sergio P, Ormond Kelly E, Caleshu Colleen, Karczewski Konrad J, Whirl-Carrillo Michelle, Wheeler Matthew T, Dudley Joel T, Byrnes Jake K, Cornejo Omar E, Knowles Joshua W, Woon Mark, Sangkuhl Katrin, Gong Li, Thorn Caroline F, Hebert Joan M, Capriotti Emidio, David Sean P, Pavlovic Aleksandra, West Anne, Thakuria Joseph V, Ball Madeleine P, Zaranek Alexander W, Rehm Heidi L, Church George M, West John S, Bustamante Carlos D, Snyder Michael, Altman Russ B, Klein Teri E, Butte Atul J, Ashley Euan A
Abstract excerpt
Whole-genome sequencing harbors unprecedented potential for characterization of individual and family genetic variation. Here, we develop a novel synthetic human reference sequence that is ethnically concordant and use it for the analysis of genomes from a nuclear family with history of familial thrombophilia. We demonstrate that the use of the major allele reference sequence results in improved genotype accuracy...
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