Comprehensive variation discovery in single human genomes

Complete knowledge of the genetic variation in individual human genomes is a crucial foundation for understanding the etiology of disease. Genetic variation is typically characterized by sequencing individual genomes and comparing reads to a reference. Existing methods do an excellent job of detecti...

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Pubblicato in:Nat Genet
Autori principali: Weisenfeld, Neil I., Yin, Shuangye, Sharpe, Ted, Lau, Bayo, Hegarty, Ryan, Holmes, Laurie, Sogoloff, Brian, Tabbaa, Diana, Williams, Louise, Russ, Carsten, Nusbaum, Chad, Lander, Eric S., MacCallum, Iain, Jaffe, David B.
Natura: Artigo
Lingua:Inglês
Pubblicazione: 2014
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Article
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC4244235/
https://ncbi.nlm.nih.gov/pubmed/25326702
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ng.3121
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