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SNP frequency estimation using massively parallel sequencing of pooled DNA
Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Genetics and Pathology.
Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Genetics and Pathology.
2008 (English)In: European Journal of Human Genetics, ISSN 1018-4813, E-ISSN 1476-5438, Vol. 17, no 3, p. 383-386Article in journal (Refereed) Published
Abstract [en]

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, p. 383-386
Keywords [en]
SNP, sequencing
National Category
Medical and Health Sciences
Research subject
Genetics
Identifiers
URN: urn:nbn:se:uu:diva-86907DOI: 10.1038/ejhg.2008.182ISI: 000263457800016PubMedID: 18854868OAI: oai:DiVA.org:uu-86907DiVA, id: diva2:133054
Note
Advance online publication, 15 October 2008Available from: 2009-01-07 Created: 2008-12-09 Last updated: 2017-12-14Bibliographically approved

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Ingman, MaxGyllensten, Ulf

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