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Evaluation of copy number variant detection from panel‐based next‐generation sequencing data
BACKGROUND: Targeted gene capture and next‐generation sequencing (NGS) has been widely utilized as a robust and cost‐effective approach for detecting small variants among a group of disease genes. Copy number variations (CNV) can also be inferred from the read‐depth information but the accuracy of C...
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| 出版年: | Mol Genet Genomic Med |
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| 主要な著者: | , , , , |
| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
John Wiley and Sons Inc.
2018
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| 主題: | |
| オンライン･アクセス: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6382442/ https://ncbi.nlm.nih.gov/pubmed/30565893 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.513 |
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