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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Detalles Bibliográficos
Autores principales: 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: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2021
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8293537/
https://www.ncbi.nlm.nih.gov/pubmed/34284719
http://dx.doi.org/10.1186/s12859-021-04246-w

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