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Add option to take a whitelist of variants #469

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jemten opened this issue Jan 9, 2024 · 0 comments
Open

Add option to take a whitelist of variants #469

jemten opened this issue Jan 9, 2024 · 0 comments
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enhancement Improvement for existing functionality

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@jemten
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jemten commented Jan 9, 2024

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

@jemten jemten added the enhancement Improvement for existing functionality label Jan 9, 2024
@jemten jemten self-assigned this Jan 10, 2024
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