Phased Whole-Genome Genetic Risk in a Family Quartet Using a Major Allele Reference Sequence

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 thr...

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Detalhes bibliográficos
Main Authors: 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.
Formato: Artigo
Idioma:Inglês
Publicado em: Public Library of Science 2011
Assuntos:
Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3174201/
https://ncbi.nlm.nih.gov/pubmed/21935354
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pgen.1002280
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