Variant Annotation, Segregation and Exclusion for family or cohort based rare-disease sequencing studies.
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Jun 2, 2022 - Python
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variant-filtering
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A prototype tool for prioritising identity-by-descent (IBD) variants in Whole Genome Sequencing (WGS) data from families with rare heritable diseases.
genomics variants ibd wgs variant-annotation variant-analysis ibis identity-by-descent prioritisation ibd-analysis variant-filtering
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Jan 5, 2023 - Shell
Variant filtering between sets of samples
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Nov 6, 2025 - Python
Bioinformatic desktop tool for processing, converting, and annotating genetic variant data (VCF, gVCF, 23andMe, FASTA)
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Mar 16, 2026 - Python
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