Detection of rare genomic variants from pooled sequencing using SPLINTER.

ABSTRACT: 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 have led to the evolution of the Common Disease / Rare Variant hypothesis suggesting that the majority of the "missing heritability" in common and complex phenotypes is instead due to an individual's personal profile of rare or private DNA variants(6-8). However, characterizing how rare variation impacts complex phenotypes requires the analysis of many affected individuals at many gen

SUBMITTER: Vallania F 

PROVIDER: S-EPMC3471313 | biostudies-literature | 2012 Jun

REPOSITORIES: biostudies-literature