Clinical-Genomics-Lund / nextflow_wgs

5 stars 5 forks source link

Order of VCFs to SVDB merge not consistent between subsequent reruns of same sample #216

Open alkc opened 4 weeks ago

alkc commented 4 weeks ago

Issue is in the title. Possible bug?

If I recall correctly -- and I might not, as this popped up during the VEP 111 update -- this affects what position and length is assigned to SVLEN when two or more variants are merged, which for example messes with loqusdb artefact matching.

i.e. a frequent artefact might be mismatched with a less-frequent entry in loqusdb because the svlen/positions have been shuffled between the merged variants