Population-based rare variant detection via pooled exome or custom hybridization capture with or without individual indexing

BACKGROUND: Rare genetic variation in the human population is a major source of pathophysiological variability and has been implicated in a host of complex phenotypes and diseases. Finding disease-related genes harboring disparate functional rare variants requires sequencing of many individuals acro...

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Hlavní autoři: Ramos, Enrique, Levinson, Benjamin T, Chasnoff, Sara, Hughes, Andrew, Young, Andrew L, Thornton, Katherine, Li, Allie, Vallania, Francesco LM, Province, Michael, Druley, Todd E
Médium: Artigo
Jazyk:Inglês
Vydáno: BioMed Central 2012
Témata:
Methodology Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC3534616/
https://ncbi.nlm.nih.gov/pubmed/23216810
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1471-2164-13-683
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