An evaluation of different target enrichment methods in pooled sequencing designs for complex disease association studies.
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ABSTRACT:
SUBMITTER: Day-Williams AG
PROVIDER: S-EPMC3206031 | biostudies-literature | 2011
REPOSITORIES: biostudies-literature
Publications
An evaluation of different target enrichment methods in pooled sequencing designs for complex disease association studies.
Day-Williams Aaron G AG McLay Kirsten K Drury Eleanor E Edkins Sarah S Coffey Alison J AJ Palotie Aarno A Zeggini Eleftheria E
PloS one 20111101 11
Pooled sequencing can be a cost-effective approach to disease variant discovery, but its applicability in association studies remains unclear. We compare sequence enrichment methods coupled to next-generation sequencing in non-indexed pools of 1, 2, 10, 20 and 50 individuals and assess their ability to discover variants and to estimate their allele frequencies. We find that pooled resequencing is most usefully applied as a variant discovery tool due to limitations in estimating allele frequency ...[more]
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