Filter-based hybridization capture of subgenomes enables resequencing and copy-number detection.
basic_science · Level V
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- Record sourced from PubMed, PMID 19543287.
- Also identified by DOI 10.1038/nmeth.1343 and PMC identifier 2773433.
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Abstract
To exploit contemporary sequencing technologies for targeted genetic analyses, we developed a hybridization enrichment strategy for DNA capture that uses PCR products as subgenomic traps. We applied this strategy to 115 kilobases of the human genome encompassing 47 genes implicated in cardiovascular disease. Massively parallel sequencing of captured subgenomic libraries interrogated 99.8% of targeted nucleotides >or=20 times ( approximately 40,000-fold enrichment), enabling sensitive and specific detection of sequence variation and copy-number variation.
Medical subject headings
- Gene Dosage
- Nucleic Acid Hybridization
- Sequence Analysis, DNA