Standard operating procedure for somatic variant refinement of sequencing data with paired tumor and normal samples

PURPOSE: Following automated variant calling, manual review of aligned read sequences is required to identify a high-quality list of somatic variants. Despite widespread use in analyzing sequence data, methods to standardize manual review have not been described, resulting in high inter- and intrala...

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Pubblicato in:Genet Med
Autori principali: Barnell, Erica K., Ronning, Peter, Campbell, Katie M., Krysiak, Kilannin, Ainscough, Benjamin J., Sheta, Lana M., Pema, Shahil P., Schmidt, Alina D., Richters, Megan, Cotto, Kelsy C., Danos, Arpad M., Ramirez, Cody, Skidmore, Zachary L., Spies, Nicholas C., Hundal, Jasreet, Sediqzad, Malik S., Kunisaki, Jason, Gomez, Felicia, Trani, Lee, Matlock, Matthew, Wagner, Alex H., Swamidass, S. Joshua, Griffith, Malachi, Griffith, Obi L.
Natura: Artigo
Lingua:Inglês
Pubblicazione: Nature Publishing Group US 2018
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Article
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC6450397/
https://ncbi.nlm.nih.gov/pubmed/30287923
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41436-018-0278-z
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