Pre-capture multiplexing provides additional power to detect copy number variation in exome sequencing

BACKGROUND: As exome sequencing (ES) integrates into clinical practice, we should make every effort to utilize all information generated. Copy-number variation can lead to Mendelian disorders, but small copy-number variants (CNVs) often get overlooked or obscured by under-powered data collection. Ma...

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保存先:
書誌詳細
出版年:BMC Bioinformatics
主要な著者: Filer, Dayne L., Kuo, Fengshen, Brandt, Alicia T., Tilley, Christian R., Mieczkowski, Piotr A., Berg, Jonathan S., Robasky, Kimberly, Li, Yun, Bizon, Chris, Tilson, Jeffery L., Powell, Bradford C., Bost, Darius M., Jeffries, Clark D., Wilhelmsen, Kirk C.
フォーマット: Artigo
言語:Inglês
出版事項: BioMed Central 2021
主題:
Research
オンライン･アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC8293537/
https://ncbi.nlm.nih.gov/pubmed/34284719
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12859-021-04246-w
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