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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:	Review
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

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