Zaboli, Ghazal and Ameur, Adam and Igl, Wilmar and Johansson, Asa and Hayward, Caroline and Vitart, Veronique and Campbell, Susan and Zgaga, Lina and Polasek, Ozren and Schmitz, Gerd and van Duijn, Cornelia and Oostra, Ben and Pramstaller, Peter and Hicks, Andrew and Meitinger, Tomas and Rudan, Igor and Wright, Alan and Wilson, James F. and Campbell, Harry and Gyllensten, Ulf (2012) Sequencing of high-complexity DNA pools for identification of nucleotide and structural variants in regions associated with complex traits. EUROPEAN JOURNAL OF HUMAN GENETICS, 20 (1). pp. 77-83. ISSN 1018-4813,
Full text not available from this repository. (Request a copy)Abstract
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. European Journal of Human Genetics (2012) 20, 77-83; doi:10.1038/ejhg.2011.138; published online 3 August 2011
| Item Type: | Article |
|---|---|
| Uncontrolled Keywords: | GENETIC-VARIATION; POPULATION; COMMON; LINKAGE; CROATIA; HEIGHT; pooling; next-generation DNA sequencing; SOLiD; SNP; indels |
| Subjects: | 600 Technology > 610 Medical sciences Medicine |
| Divisions: | Medicine > Lehrstuhl für Klinische Chemie und Laboratoriumsmedizin |
| Depositing User: | Dr. Gernot Deinzer |
| Date Deposited: | 25 May 2020 10:37 |
| Last Modified: | 25 May 2020 10:37 |
| URI: | https://pred.uni-regensburg.de/id/eprint/19608 |
Actions (login required)
 |
View Item |
