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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).
The text was updated successfully, but these errors were encountered:
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:
tempo/pipeline.nf
Lines 1838 to 1844 in 41a0bf5
germline annotation:
tempo/pipeline.nf
Lines 2335 to 2340 in 41a0bf5
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).
The text was updated successfully, but these errors were encountered: