Anders Lind

Results 26 comments of Anders Lind

Make sure all final VCFs come with strand bias stats for each SNV/INDEL

Refinement 2022-12-13: - Need to see if this is still at problem in the current version

Balsamic: List of all uploaded variants in a gene when looking at one variant

Refinement 2022-12-13: - @khurrammaqbool is in contact with Daniel to see what is still missing. - Will look into this and refine the issue

Balsamic: List of all uploaded variants in a gene when looking at one variant

@khurrammaqbool will talk to Daniel and update this issue, including effort, gain and urgency.

Using Genotype to detect mixups

Are there other "safety measures" we should consider implementing? If so, perhaps we could try to combine these into a single new feature.

GnomAD frequency parsing when both CSQ and INFO keys are present

Refinement 2022-12-13: - Linked to #596 - Might be solved by switch to GRCh38?

Fix documentation link

I'm not sure how to proceed with these tests which are failing. Any input @mashehu ?