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High-throughput discovery of rare insertions and deletions in large cohorts
Pooled-DNA sequencing strategies enable fast, accurate, and cost-effect detection of rare variants, but current approaches are not able to accurately identify short insertions and deletions (indels), despite their pivotal role in genetic disease. Furthermore, the sensitivity and specificity of these...
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| Główni autorzy: | , , , , , , |
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| Format: | Artigo |
| Język: | Inglês |
| Wydane: |
Cold Spring Harbor Laboratory Press
2010
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| Hasła przedmiotowe: | |
| Dostęp online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC2989997/ https://ncbi.nlm.nih.gov/pubmed/21041413 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1101/gr.109157.110 |
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