nf-core/raredisease

Add option to take a whitelist of variants

jemten opened this issue · 2 comments

Description of feature

Right now we have the option of filtering the vcf to remove common mutations as they are very unlikely to cause a rare disease. However, some mutations are quite common and can still cause serious effects, one such example is founder mutations. It would be useful to be able to provide a vcf with variants that should never be filtered, i.e. a whitelist. These variants should then be rescued from the filtering happening here

BCFTOOLS_VIEW(ZIP_TABIX_VCFANNO.out.gz_tbi, [], [], []) // filter on frequencies