Efficient and Cost Effective Population Resequencing by Pooling and In-Solution Hybridization
Efficient and Cost Effective Population Resequencing by Pooling and In-Solution Hybridization
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DOI：
10.1371/journal.pone.0018353
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发表时间：
2011-03-30
期刊：
影响因子：
3.7
通讯作者：
Schork, Nicholas J.
中科院分区：
文献类型：
--
作者：
Bansal, Vikas;Tewhey, Ryan;Schork, Nicholas J.
大群体中靶向基因组位点的高通量测序是评估罕见变异对疾病风险贡献的有效方法。我们评估了在混合DNA样本上使用基于溶液杂交的靶标捕获的可行性，以实现经济高效的群体测序研究。为此，我们执行pooled；使用Illumina GAIIx对100个HapMap样本进行了类似于600 kb DNA序列的测序。利用我们的精确变异调用方法，我们不仅能够以低的错误发现率（= 0.995）识别单核苷酸变异。
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 similar to 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).