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Enrichment of sequencing targets from the human genome by solution hybridization
To exploit fully the potential of current sequencing technologies for population-based studies, one must enrich for loci from the human genome. Here we evaluate the hybridization-based approach by using oligonucleotide capture probes in solution to enrich for approximately 3.9 Mb of sequence target....
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| Published in: | Genome biology 2009-01, Vol.10 (10), p.R116-R116, Article R116 |
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| Main Authors: | , , , , , , , , , , , , |
| Format: | Article |
| Language: | English |
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| cited_by | cdi_FETCH-LOGICAL-b726t-78fac041071cca83cb8032fa7597685e2bd84a6a2a5384393ea426f6d0ce01223 |
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| cites | cdi_FETCH-LOGICAL-b726t-78fac041071cca83cb8032fa7597685e2bd84a6a2a5384393ea426f6d0ce01223 |
| container_end_page | R116 |
| container_issue | 10 |
| container_start_page | R116 |
| container_title | Genome biology |
| container_volume | 10 |
| creator | Tewhey, Ryan Nakano, Masakazu Wang, Xiaoyun Pabón-Peña, Carlos Novak, Barbara Giuffre, Angelica Lin, Eric Happe, Scott Roberts, Doug N LeProust, Emily M Topol, Eric J Harismendy, Olivier Frazer, Kelly A |
| description | To exploit fully the potential of current sequencing technologies for population-based studies, one must enrich for loci from the human genome. Here we evaluate the hybridization-based approach by using oligonucleotide capture probes in solution to enrich for approximately 3.9 Mb of sequence target. We demonstrate that the tiling probe frequency is important for generating sequence data with high uniform coverage of targets. We obtained 93% sensitivity to detect SNPs, with a calling accuracy greater than 99%. |
| doi_str_mv | 10.1186/gb-2009-10-10-r116 |
| format | article |
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| ispartof | Genome biology, 2009-01, Vol.10 (10), p.R116-R116, Article R116 |
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| language | eng |
| recordid | cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_2784331 |
| source | Open Access: PubMed Central |
| subjects | Base Sequence Cell Line DNA Probes - metabolism Exons - genetics Gene Library Genome, Human - genetics Genotype Humans Method Mutation - genetics Nucleic Acid Hybridization - methods Oligonucleotide Array Sequence Analysis Reproducibility of Results Sequence Analysis, DNA - methods Solutions |
| title | Enrichment of sequencing targets from the human genome by solution hybridization |
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