dellytools / sansa Star 38 Code Issues Pull requests Structural variant VCF annotation, filtering, duplicate removal and comparison gene-annotation structural-variation vcf-comparison vcf-filtering delly sv-annotation sv-merging vcf-annotation Updated Sep 3, 2026 C++
davide-scognamiglio / MuSA Star 4 Code Issues Pull requests Multi-source germline variant annotation pipeline bioinformatics nextflow vcf clinvar vep variant-annotations hpo precision-medicine germline-variants acmg variant-interpretation nextflow-pipeline clinical-genomics rare-diseases genomic-variants vcf-annotation variant-prioritization Updated Sep 24, 2026 Python
biotec-line / VFDistiller Star 2 Code Issues Pull requests Discussions Local-first VCF/gVCF genetic variant annotation desktop app for research use only (Windows, 23andMe, FASTA, gnomAD) desktop-app python bioinformatics genomics genetics offline-first vcf dna tkinter clinvar genetic-variants privacy-first gvcf local-first gnomad variant-filtering pyside6 ttkbootstrap vcf-annotation research-use-only Updated Sep 23, 2026 Python
deeprob / glannot Star 1 Code Issues Pull requests Girirajan Lab VCF file annotation pipeline vep vcf-annotation loftee vep-annotation-pipeline vep-docker vep-singularity vep-slurm Updated Jul 13, 2023 Shell
biotec-line / .github Star 1 Code Issues Pull requests biotec-line organization profile for local-first bioinformatics, VCF, genotype conversion, and research-use-only genetic variant tools python bioinformatics genomics genetics offline-first vcf github-profile desktop-apps genetic-variants genetic-data vcf-converter privacy-first gvcf local-first bioinformatics-tools org-profile vcf-annotation llms-txt research-use-only dtc-genetics Updated Sep 23, 2026 Python
Jonahnki / TRACE Star 0 Code Issues Pull requests Transposable element Recognition And Comprehensive Evaluation genomics hackathon bedtools transposable-elements repeatmasker structural-variants long-read-sequencing sniffles vcf-annotation Updated Aug 30, 2025 Python