Skip to content
New issue

Have a question about this project? Sign up for a free GitHub account to open an issue and contact its maintainers and the community.

By clicking “Sign up for GitHub”, you agree to our terms of service and privacy statement. We’ll occasionally send you account related emails.

Already on GitHub? Sign in to your account

Implement Tumor-Normal pair somatic variant calling #133

Closed
mfoll opened this issue Oct 11, 2016 · 1 comment
Closed

Implement Tumor-Normal pair somatic variant calling #133

mfoll opened this issue Oct 11, 2016 · 1 comment

Comments

@mfoll
Copy link
Member

mfoll commented Oct 11, 2016

We should add a feature for calling somatic mutations from multiple pairs of tumor-normal.

The basic idea will be to calculate for each normal sample the qvalue we would have if there were a mutation with AF=20%. We call that QVAL_20PC and add it in the genotype filed for all samples (put "." for tumors). Using this, we can classify mutations in the tumor as SOMATIC, GERMLINE or UNKNOWN and write this as a new genotype field (SOMATIC_STATUS):

  • QVAL_TUMOR>50 & QVAL_20PC<threshold -> UNKNOWN
  • QVAL_TUMOR>50 & QVAL_20PC>threshold & QVAL_NORMAL>threshold -> GERMLINE
  • QVAL_TUMOR>50 & QVAL_20PC>threshold & QVAL_NORMAL<threshold -> SOMATIC
    QVAL_20PC should always be calculated in case we change the threshold afterward.
    All normals will have "." as SOMATIC_STATUS.
    If QVAL_TUMOR<50 put "." as SOMATIC_STATUS.

EDIT: Also flag tumors when low power to detect a mutation with AF=X%

  • QVAL_TUMOR<50 & QVAL_XPC_TUMOR < threshold -> ".."
@mfoll
Copy link
Member Author

mfoll commented Oct 11, 2016

Things to add/change:

Sign up for free to join this conversation on GitHub. Already have an account? Sign in to comment
Projects
None yet
Development

No branches or pull requests

3 participants