Characterization of Germline variants

Explore gnomAD datasets on the web

This package scales the huge gnomAD files to a SQLite database, which is easy and fast to query. It extracts from a gnomAD vcf the minor allele frequency for each variant.

🧬 gnomAD Python API is used to obtain data from gnomAD (genome aggregation database).

Some BASH Projects

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

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

Identification of cancer-causing variants

R package to access gnomAD API (under development)

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