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hartwigmedical / hmftools

Various algorithms for analysing genomics data
GNU General Public License v3.0
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DEV-3727: Add option to PAVE to never PON-filter ClinVar pathogenic variants #503

Closed DFKoetsier closed 5 months ago

DFKoetsier commented 5 months ago

Intended for targeted runs. Applies to variants whose ClinVar annotations would be categorized as PATHOGENIC or LIKELY_PATHOGENIC by the code for such interpretations in hmf-common. Making correct use of this feature requires providing ClinVar and blacklist annotation in PAVE for the run.

DFKoetsier commented 5 months ago

Charles agreed with merging this