Ontology highlight
ABSTRACT:
SUBMITTER: Dewey FE
PROVIDER: S-EPMC3174201 | biostudies-literature | 2011 Sep
REPOSITORIES: biostudies-literature
Dewey Frederick E FE Chen Rong R Cordero Sergio P SP Ormond Kelly E KE Caleshu Colleen C Karczewski Konrad J KJ Whirl-Carrillo Michelle M Wheeler Matthew T MT Dudley Joel T JT Byrnes Jake K JK Cornejo Omar E OE Knowles Joshua W JW Woon Mark M Sangkuhl Katrin K Gong Li L Thorn Caroline F CF Hebert Joan M JM Capriotti Emidio E David Sean P SP Pavlovic Aleksandra A West Anne A Thakuria Joseph V JV Ball Madeleine P MP Zaranek Alexander W AW Rehm Heidi L HL Church George M GM West John S JS Bustamante Carlos D CD Snyder Michael M Altman Russ B RB Klein Teri E TE Butte Atul J AJ Ashley Euan A EA
PLoS genetics 20110915 9
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 for disease-associated variant loci. We infer recombination sites to the lowest med ...[more]