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7.5 years ago
Chirag Nepal
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2.4k
Hi there,
I analyzed some publicly available exome-seq data, and do not have matched normal/germline.
I identified somatic mutation (VCF format), by setting high filtering threshold. Which tool can be used to predict significantly mutated genes from these list ? Previously i used genome-music to find signifiacntly mutated genes, which requires both tumor/normal samples, and i dont't have matcher normal. Which tools cam predict significant mutations without matched normal samples.
Thanks !
Maybe this post could help you. It is very tricky to find somatic mutations without the matched normal pairs. Taking in to account the "somatic" definition itself, how could you distinguish between somatic mutations from germline ones without a normal samples to make the comparison against?
Sorry for not being more helpful :)
this is also my question, I found these posts but did not try yet. I read something about SKAT or burden test with 1000 genome as control
Somatic mutation calling without matched normal
Calling variants in blood tumor samples without matched normal samples
Check this post as well : Discrimination Between Germline And Somatic Mutations In Tumor Without The Availability Of The Normal Paired Sample