Clinical-Genomics / genotype

Simple genotype comparison of VCF files
http://taboo.readthedocs.org/en/latest/
MIT License
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Bug(incorrect matching of data) #68

Closed karlnyr closed 1 year ago

karlnyr commented 1 year ago

We recently discovered a case where the variants were told to be mismatched by the UI which was also confirmed by using the genotype check CLI command.

However, when we investigated these variants further we found that:

This is very concerning - as it would seem that either the data uploaded to Genotype is not what we believe it to be OR we are doing an incorrect match for these Homozygous calls.

Vince-janv commented 1 year ago

Issue caused by demux using wrong sample sheet, and hence reads from multiple samples (see deviation). Genotype was functioning correctly. Overwrite the previous data using cg upload genotypes <case_id> -f