ArticleEuropean journal of human genetics : EJHG2012
Sequencing of high-complexity DNA pools for identification of nucleotide and structural variants in regions associated with complex traits.
Article in European journal of human genetics : EJHG, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
6 citing papers in PubMed, 14 citations in OpenAlex.
- SweGen: a whole-genome data resource of genetic variability in a cross-section of the Swedish population.European journal of human genetics : EJHG · 2017Article
- PATZ1 down-regulates FADS1 by binding to rs174557 and is opposed by SP1/SREBP1c.Nucleic acids research · 2017Article
- Determination of obesity associated gene variants related to TMEM18 through ultra-deep targeted re-sequencing in a case-control cohort for pediatric obesity.Genetics research · 2015Article
- Lessons learned from implementing a national infrastructure in Sweden for storage and analysis of next-generation sequencing data.GigaScience · 2013Article
- Determination of the obesity-associated gene variants within the entire FTO gene by ultra-deep targeted sequencing in obese and lean children.International journal of obesity (2005) · 2013Article
- Genetic adaptation of fatty-acid metabolism: a human-specific haplotype increasing the biosynthesis of long-chain omega-3 and omega-6 fatty acids.American journal of human genetics · 2012Article
Corrections and comments
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Authors and funding
21 authors at 11 institutions in 6 countries.
Funding
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.
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