Skip to content

Ability to skip nonvariant records within a trio for mendelian2 plugin #2204

@ASLeonard

Description

@ASLeonard

I was collecting some mendelian error rate stats on a multi-sample VCF containing fairly diverged trios. One "issue" I noticed was that many trios would have homozygous-reference genotypes for all three members of that trio. Since the samples could be fairly diverged, sometimes up to half of the "ngood" variants are these technically mendelian-consistent but otherwise incredibly boring records.

I tried adding a flag and if statement to skip any variants where there was no variation within that trio, and that seemed to work, placing this

if ( args->filter_reference && mom==1 && dad==1 && kid1==1 && kid2==1) continue;

right before

if ( (kid1&dad && kid2&mom) || (kid1&mom && kid2&dad) ) { ret |= HAS_GOOD; trio->stats.ngood++; continue; } // both children's alleles phased

The current behaviour is perhaps the most valid, but not necessarily the most useful for some purposes, so curious for additional thoughts.

Best,
Alex

Metadata

Metadata

Assignees

No one assigned

    Labels

    No labels
    No labels

    Type

    No type

    Projects

    No projects

    Milestone

    No milestone

    Relationships

    None yet

    Development

    No branches or pull requests

    Issue actions