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Best practices for variant calling in clinical sequencing

Next-generation sequencing technologies have enabled a dramatic expansion of clinical genetic testing both for inherited conditions and diseases such as cancer. Accurate variant calling in NGS data is a critical step upon which virtually all downstream analysis and interpretation processes rely. Jus...

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Detalles Bibliográficos
Autor principal: Koboldt, Daniel C.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7586657/
https://www.ncbi.nlm.nih.gov/pubmed/33106175
http://dx.doi.org/10.1186/s13073-020-00791-w