Article
Detection of rare genomic variants from pooled sequencing using SPLINTER.
Journal of visualized experiments : JoVE - 23 Jun 2012
Vallania Francesco, Ramos Enrique, Cresci Sharon, Mitra Robi D, Druley Todd E
Abstract excerpt
As DNA sequencing technology has markedly advanced in recent years(2), it has become increasingly evident that the amount of genetic variation between any two individuals is greater than previously thought(3). In contrast, array-based genotyping has failed to identify a significant contribution of common sequence variants to the phenotypic variability of common disease(4,5). Taken together, these observations...
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