You signed in with another tab or window. Reload to refresh your session.You signed out in another tab or window. Reload to refresh your session.You switched accounts on another tab or window. Reload to refresh your session.Dismiss alert
Describe the bug
In a case/pedigree with multiple samples some variants may not have usable data from all samples (either due to missing coverage or also on the Y chromosome). In vcf files this can either be encoded as a single "." for that sample in the sample/genotype block or with individual missing values for each defined Format field. In the tsv file used for data-import to Varfish the sample specific data (genotype column) can - in principle - also be empty for single samples (i.e. """sample_2""": {} ). However, in cases like the the variant filtration for this sample will fail for the whole set of variants (SNVs or SVs).
To Reproduce
Steps to reproduce the behavior:
Generate a tsv file with empty genotype data for a single variant in a single sample (i.e. using mehari on a vcf with a "." in the sample block).
Import this case to Varfish
Attempt variant filtration
See error
Expected behavior
Given that some samples may not have any usable information for some variants, ideally the variant filtration should be able to deal with missing data.
Alternatively, import of variants with missing data for even a single sample should be reject, so that filtration will not fail due to this.
Additional context
This could be fixed by never writing empty sample/genotype-data into the tsv files used for varfish import, see mehari issue 672
The text was updated successfully, but these errors were encountered:
Describe the bug
In a case/pedigree with multiple samples some variants may not have usable data from all samples (either due to missing coverage or also on the Y chromosome). In vcf files this can either be encoded as a single "." for that sample in the sample/genotype block or with individual missing values for each defined Format field. In the tsv file used for data-import to Varfish the sample specific data (genotype column) can - in principle - also be empty for single samples (i.e. """sample_2""": {} ). However, in cases like the the variant filtration for this sample will fail for the whole set of variants (SNVs or SVs).
To Reproduce
Steps to reproduce the behavior:
Expected behavior
Given that some samples may not have any usable information for some variants, ideally the variant filtration should be able to deal with missing data.
Alternatively, import of variants with missing data for even a single sample should be reject, so that filtration will not fail due to this.
Additional context
This could be fixed by never writing empty sample/genotype-data into the tsv files used for varfish import, see mehari issue 672
The text was updated successfully, but these errors were encountered: