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Efficient and Cost Effective Population Resequencing by Pooling and In-Solution Hybridization.
PLoS One. 2011;6(3):e18353
Authors: Bansal V, Tewhey R, Leproust EM, Schork NJ
High-throughput sequencing of targeted genomic loci in large populations is an effective approach for evaluating the contribution of rare variants to disease risk. We evaluated the feasibility of using in-solution hybridization-based target capture on pooled DNA samples to enable cost-efficient population sequencing studies.*For this, we performed pooled sequencing of 100 HapMap samples across ~600 kb of DNA sequence using the Illumina GAIIx. Using our accurate variant calling method for pooled sequence data, we were able to not only identify single nucleotide variants with a low false discovery rate ( = 0.995).
PMID: 21479135 [PubMed - as supplied by publisher]
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Efficient and Cost Effective Population Resequencing by Pooling and In-Solution Hybridization.
PLoS One. 2011;6(3):e18353
Authors: Bansal V, Tewhey R, Leproust EM, Schork NJ
High-throughput sequencing of targeted genomic loci in large populations is an effective approach for evaluating the contribution of rare variants to disease risk. We evaluated the feasibility of using in-solution hybridization-based target capture on pooled DNA samples to enable cost-efficient population sequencing studies.*For this, we performed pooled sequencing of 100 HapMap samples across ~600 kb of DNA sequence using the Illumina GAIIx. Using our accurate variant calling method for pooled sequence data, we were able to not only identify single nucleotide variants with a low false discovery rate ( = 0.995).
PMID: 21479135 [PubMed - as supplied by publisher]
More...