Clinical-Genomics / genmod

Annotate models of genetic inheritance patterns in variant files (vcf files)
http://moonso.github.io/genmod/
MIT License
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Incorrect "Compounds" INFO field in case of multiallelic records #97

Closed bartcharbon closed 3 years ago

bartcharbon commented 3 years ago

For compounds, in case of multi allelics VCF lines, comma's are added in the created key, which are the list sepearators in the VCF INFO field

example: Compounds=FAM001:1_1234567_G_A,T|1_1234568_C_T,FAM002:1_1234567_G_A

Which in VCF is a list of:

moonso commented 3 years ago

Hi @bartcharbon , thank you for considering genmod. While not specified, genmod is not adapted to work on multi allelic variants. I recommend that you split and normalise the vcf before running genmod.

moonso commented 3 years ago

If you consider this solved, please close