We are currently using the purity facets result to annotate the maf, but I believe we should be using the hisens result instead. looks like the clinical impact runs are run using hisens, and for annotating point mutations i think it makes sense to use a result with less smoothing.
We found that this led to tcn and lcn annotations in the maf that we didn't expect, for example in the following variant, tcn/lcn was 2/1, but the zygosity flag said that there was LOH. Taken together, purity and t_var_freq would suggest that it is in fact LOH. The hisens copy number says that the segment would be 1/0, and would be harmonious with t_var_freq (if i understand it correctly).
We are currently using the purity facets result to annotate the maf, but I believe we should be using the hisens result instead. looks like the clinical impact runs are run using hisens, and for annotating point mutations i think it makes sense to use a result with less smoothing.
somatic annotation: https://github.com/mskcc/tempo/blob/41a0bf5b1182eb7c8b2789221086c0f9254711cd/pipeline.nf#L1838-L1844
germline annotation: https://github.com/mskcc/tempo/blob/41a0bf5b1182eb7c8b2789221086c0f9254711cd/pipeline.nf#L2335-L2340
Here is an example annotation for a variant (select columns):
We found that this led to tcn and lcn annotations in the maf that we didn't expect, for example in the following variant, tcn/lcn was 2/1, but the zygosity flag said that there was LOH. Taken together, purity and t_var_freq would suggest that it is in fact LOH. The hisens copy number says that the segment would be 1/0, and would be harmonious with t_var_freq (if i understand it correctly).