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

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

<p>Abstract</p> <p>Background</p> <p>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 rar...

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Bibliographic Details
Main Authors: Ramos Enrique, Levinson Benjamin T, Chasnoff Sara, Hughes Andrew, Young Andrew L, Thornton Katherine, Li Allie, Vallania Francesco LM, Province Michael, Druley Todd E
Format: Article
Language:English
Published: BMC 2012-12-01
Series:BMC Genomics
Subjects:
Rare variants
Genomics
Exome
Hybridization capture
Multiplexed capture
Indexed capture
SPLINTER
Online Access:http://www.biomedcentral.com/1471-2164/13/683

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