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A highly sensitive and specific workflow for detecting rare copy-number variants from exome sequencing data
BACKGROUND: Exome sequencing (ES) is a first-tier diagnostic test for many suspected Mendelian disorders. While it is routine to detect small sequence variants, it is not a standard practice in clinical settings to detect germline copy-number variants (CNVs) from ES data due to several reasons relat...
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| 出版年: | Genome Med |
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| 主要な著者: | , , , |
| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
BioMed Central
2020
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| 主題: | |
| オンライン･アクセス: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6993336/ https://ncbi.nlm.nih.gov/pubmed/32000839 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13073-020-0712-0 |
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