SNP frequency estimation using massively parallel sequencing of pooled DNA.
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.
Department of Genetics and Pathology, Rudbeck Laboratory, Uppsala University, Uppsala, Sweden. max.ingman@genpat.uu.se
Max
M
Ingman
Ulf
U
Gyllensten
D004247:DNA / Q000235:genetics*; D005787:Gene Frequency; D014644:Genetic Variation; D015894:Genome, Human; D006801:Humans; D020641:Polymorphism, Single Nucleotide; D017422:Sequence Analysis, DNA
D004247:DNA