SNP frequency estimation using massively parallel sequencing of pooled DNA
2008 (English)In: European Journal of Human Genetics, ISSN 1018-4813, E-ISSN 1476-5438, Vol. 17, no 3, 383-386 p.Article in journal (Refereed) Published
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.European Journal of Human Genetics advance online publication, 15 October 2008; doi:10.1038/ejhg.2008.182.
Place, publisher, year, edition, pages
2008. Vol. 17, no 3, 383-386 p.
Medical and Health Sciences
Research subject Genetics
IdentifiersURN: urn:nbn:se:uu:diva-86907DOI: 10.1038/ejhg.2008.182ISI: 000263457800016PubMedID: 18854868OAI: oai:DiVA.org:uu-86907DiVA: diva2:133054
Advance online publication, 15 October 20082009-01-072008-12-092010-09-13Bibliographically approved