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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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Publicat a:Genome Med
Autor principal: Koboldt, Daniel C.
Format: Artigo
Idioma:Inglês
Publicat: BioMed Central 2020
Matèries:
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC7586657/
https://ncbi.nlm.nih.gov/pubmed/33106175
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13073-020-00791-w
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