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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Bibliographic Details
Published in:Nat Genet
Main Authors: 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.
Format: Artigo
Language:Inglês
Published: 2014
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Article
Online Access: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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