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SNP frequency estimation using massively parallel sequencing of pooled DNA.

ABSTRACT: Resequencing of genomic regions that have been implicated by linkage and/or association studies to harbor genetic susceptibility loci represents a necessary step to identify causal variants. Massively parallel sequencing (MPS) offers the possibility of SNP discovery and frequency determination among pooled DNA samples. The strategies of pooling DNA samples and pooling PCR amplicons generated from individual DNA samples were evaluated, and both were found to return accurate estimates of SNP frequencies across varying levels of sequence coverage.

SUBMITTER: Ingman M 

PROVIDER: S-EPMC2986170 | biostudies-literature | 2009 Mar

REPOSITORIES: biostudies-literature

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SNP frequency estimation using massively parallel sequencing of pooled DNA.

Ingman Max M   Gyllensten Ulf U  

European journal of human genetics : EJHG 20081015 3

Resequencing of genomic regions that have been implicated by linkage and/or association studies to harbor genetic susceptibility loci represents a necessary step to identify causal variants. Massively parallel sequencing (MPS) offers the possibility of SNP discovery and frequency determination among pooled DNA samples. The strategies of pooling DNA samples and pooling PCR amplicons generated from individual DNA samples were evaluated, and both were found to return accurate estimates of SNP frequ  ...[more]

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