Characterization of Germline variants

Explore gnomAD datasets on the web

Scalable SQLite database for fast querying of gnomAD variant annotations (allele frequency, depth, population metrics). Supports gnomAD v2-v4, WGS and WES.

[deprecated] 🧬 Python API to fetch gnomAD data

Variant Agents: Multi-Agent Genomic Analysis

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

Analyze human genetic knockouts to predict drug efficacy and side effects

The ProteoGenomics database generation workflow creates different protein databases for ProteoGenomics data analysis.

Some BASH Projects

An AI-driven genomic intelligence system delivering structured ClinVar interpretation and high-precision exon, intron, and gene queries using the Model Context Protocol (MCP).

R package to access gnomAD API (under development)

Identification of cancer-causing variants

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.

shiny web-app

Research tool for exploring carrier frequencies and recurrence risks for autosomal recessive conditions using gnomAD population data. For research use only.

Computational pipeline for prioritizing structurally tractable pharmacologic rescue candidates across KCNQ1-KCNQ5.

Integrated computational analysis of OTOF gene variants for cochlear gene therapy. Combines ClinVar curation, gnomAD population frequencies, and AlphaFold-predicted structural mapping. Identifies ancestry-specific founder mutations and quantifies domain-level intolerance in otoferlin.

ML pipeline for pathogenic variant analysis in scoliosis genes using ClinVar, gnomAD, UMAP, and KMeans clustering

Convert VCF files with AF (e.g., ToMMo/jMorp, gnomAD) to ANNOVAR database format.