Characterization of Germline variants
bioinformatics annotations clinical variants characterization pathogenicity clinvar vep diseases pathogenic-variants germline-variants exac acmg gnomad
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Mar 15, 2022 - Python
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gnomad
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Scalable SQLite database for fast querying of gnomAD variant annotations (allele frequency, depth, population metrics). Supports gnomAD v2-v4, WGS and WES.
python bioinformatics database annotation genomics genetics sqlite vcf population-genetics whole-genome-sequencing variant-annotation variant-analysis exome-sequencing rare-variant-analysis gnomad allele-frequency
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Mar 8, 2026 - Python
[deprecated] 🧬 Python API to fetch gnomAD data
genomics variants bioinformatics-databases genomics-data gnomad gnomad-python-api genome-aggregation-database
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Dec 9, 2021 - Python
Variant Agents: Multi-Agent Genomic Analysis
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Feb 13, 2026 - TypeScript
PyGeneBe: A Python client seamlessly integrating with the GeneBe platform, offering efficient annotation of genetic variants through its API, while supporting pandas, VCF file formats, and HGVS parsing
python bioinformatics genetics clinvar variant-annotations hgvs gnomad vep-annotation acmg-guidelines
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Dec 4, 2025 - Python
Some BASH Projects
dotfiles bash jukebox debian gnome sway bash-script efi bash-scripting simple-project dotfiles-linux efistub gnomad sway-config gnome-wallpaper systemdboot
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Jun 23, 2022 - Shell
The ProteoGenomics database generation workflow creates different protein databases for ProteoGenomics data analysis.
workflow pipeline nextflow proteomics cosmic proteogenomics nf-core protein-databases gnomad pypgatk
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Jan 13, 2025 - Nextflow
An AI-driven genomic intelligence system delivering structured ClinVar interpretation and high-precision exon, intron, and gene queries using the Model Context Protocol (MCP).
genomics mcp pubmed ncbi clinvar ncbi-database ncbi-blast bioinformatics-tool gnomad gnomad-mcp clinvar-mcp pubmed-mcp ncbi-database-mcp ncbi-blast-mcp ncbi-mcp clinvar-database clinvar-database-mcp precision-medicine-mcp
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Jan 18, 2026 - Python
Identification of cancer-causing variants
bioinformatics annotations clinical dbsnp variants cancer-genomics clinvar diseases cancer-research grch37 cancer-detection allele-frequencies conservation-scores functional-prediction pathogenic-variants dbnsfp gnomad clinical-significance hereditary-cancer-syndrome acmg-guidelines
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Apr 19, 2024 - Python
Using gnomad-browser's GraphQL updated API to retrieve total joint allele frequencies, exome/genome allele frequencies and homozygote counts as well as population specific numbers for a batch of variants.
python mutations batch variants population population-genomics batch-processing allele-frequencies gnomad homozygosity
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Jun 12, 2024 - Python
Research tool for exploring carrier frequencies and recurrence risks for autosomal recessive conditions using gnomAD population data. For research use only.
calculator typescript pwa vue genetics vuetify vite genetic-counseling gnomad carrier-frequency clinical-genetics hardy-weinberg
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Feb 27, 2026 - TypeScript
ML pipeline for pathogenic variant analysis in scoliosis genes using ClinVar, gnomAD, UMAP, and KMeans clustering
python machine-learning bioinformatics genomics clustering clinvar umap variant-analysis scoliosis gnomad
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Mar 16, 2026 - Python
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