Standard operating procedure for somatic variant refinement of sequencing data with paired tumor and normal samples.,Genetics in Medicine

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Standard operating procedure for somatic variant refinement of sequencing data with paired tumor and normal samples.
Genetics in Medicine ( IF 8.8 ) Pub Date : 2018-Oct-05 , DOI: 10.1038/s41436-018-0278-z
Erica K Barnell ₁ , Peter Ronning ₁ , Katie M Campbell ₁ , Kilannin Krysiak _{1,

2} , Benjamin J Ainscough _{1,

3} , Lana M Sheta ₁ , Shahil P Pema ₁ , Alina D Schmidt ₁ , Megan Richters ₁ , Kelsy C Cotto ₁ , Arpad M Danos ₁ , Cody Ramirez ₁ , Zachary L Skidmore ₁ , Nicholas C Spies ₁ , Jasreet Hundal ₁ , Malik S Sediqzad ₁ , Jason Kunisaki ₁ , Felicia Gomez ₁ , Lee Trani ₁ , Matthew Matlock ₁ , Alex H Wagner ₁ , S Joshua Swamidass _{4,

5} , Malachi Griffith _{1,

2,

3,

6} , Obi L Griffith _{1,

2,

3,

6}

Affiliation

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 intralab variability.

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