Variant Annotation, Segregation and Exclusion for family or cohort based rare-disease sequencing studies.
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Updated
Jun 2, 2022 - Python
Variant Annotation, Segregation and Exclusion for family or cohort based rare-disease sequencing studies.
A prototype tool for prioritising identity-by-descent (IBD) variants in Whole Genome Sequencing (WGS) data from families with rare heritable diseases.
Variant filtering between sets of samples
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