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RVtests CMC output column definitions

When running CMC test, the output has NumVar, NumPolyVar, and NonRefSite. What do they mean?

snp rvtests next-gen-sequencing

I contacted the developers by email, but no reply.

Any luck receiving a reply?

Having the same issue, ftlin22?

Did anyone get an answer to this? Having the same issue.

3 answers

From searching their repo, they mean:

  • NumVar: number of variants in the gene(or site)
  • NumPolyVar: number of Polymorphic Genotypes
  • NonRefSite: non-reference site, genotype is not exactly 0.0

Related GitHub issue #50

Late answer, but after checking, it is quite likely that numpolyvar corresponds to the number of variants use for association test, after discarding variants with null allele count in the study population. Num var appears to be the number of variants passing filters (frequency cutoff, etc).

I would contact the developers in order to find out and to be sure: https://github.com/zhanxw/rvtests#feedbackcontact

It is not expressly stated what these output values represent.

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