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Allele-specific copy-number discovery from whole-genome and whole-exome sequencing
Copy-number variants (CNVs) are a major form of genetic variation and a risk factor for various human diseases, so it is crucial to accurately detect and characterize them. It is conceivable that allele-specific reads from high-throughput sequencing data could be leveraged to both enhance CNV detect...
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| 出版年: | Nucleic Acids Res |
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| 主要な著者: | , , , , |
| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
Oxford University Press
2015
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| 主題: | |
| オンライン･アクセス: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4538801/ https://ncbi.nlm.nih.gov/pubmed/25883151 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/nar/gkv319 |
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