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Open Access Green möglich sobald Postprint bei der ZB eingereicht worden ist.
Sequencing of high-complexity DNA pools for identification of nucleotide and structural variants in regions associated with complex traits.
Eur. J. Hum. Genet. 20, 77-83 (2012)
We have used targeted genomic sequencing of high-complexity DNA pools based on long-range PCR and deep DNA sequencing by the SOLiD technology. The method was used for sequencing of 286 kb from four chromosomal regions with quantitative trait loci (QTL) influencing blood plasma lipid and uric acid levels in DNA pools of 500 individuals from each of five European populations. The method shows very good precision in estimating allele frequencies as compared with individual genotyping of SNPs (r(2) = 0.95, P < 10(-16)). Validation shows that the method is able to identify novel SNPs and estimate their frequency in high-complexity DNA pools. In our five populations, 17% of all SNPs and 61% of structural variants are not available in the public databases. A large fraction of the novel variants show a limited geographic distribution, with 62% of the novel SNPs and 59% of novel structural variants being detected in only one of the populations. The large number of population-specific novel SNPs underscores the need for comprehensive sequencing of local populations in order to identify the causal variants of human traits.
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Publikationstyp
Artikel: Journalartikel
Dokumenttyp
Wissenschaftlicher Artikel
Schlagwörter
pooling; next-generation DNA sequencing; SOLiD; SNP; indels
ISSN (print) / ISBN
1018-4813
e-ISSN
1476-5438
Zeitschrift
European Journal of Human Genetics
Quellenangaben
Band: 20,
Heft: 1,
Seiten: 77-83
Verlag
Nature Publishing Group
Nichtpatentliteratur
Publikationen
Begutachtungsstatus
Peer reviewed
Institut(e)
Institute of Human Genetics (IHG)