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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Detalhes bibliográficos
Publicado no:BMC Bioinformatics
Main Authors: 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.
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2021
Assuntos:
Research
Acesso em linha: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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