Projects in Awesome Lists tagged with variant-annotations

https://github.com/broadinstitute/viral-ngs

Viral genomics analysis pipelines

bam fastq genome genome-assembly genome-sequencing genomics illumina variant-annotations variant-calling viral viral-ngs

Last synced: 03 Apr 2026

https://github.com/brentp/echtvar

using all the bits for echt rapid variant annotation and filtering

genetic-variants genomics variant-analysis variant-annotations

Last synced: 04 Apr 2025

https://github.com/KarchinLab/open-cravat

A modular annotation tool for genomic variants

annotation-tool bioinformatics bioinformatics-pipeline bioinformatics-tool genomic-data-analysis genomics javascript python python3 variant-analysis variant-annotation variant-annotations

Last synced: 16 Nov 2025

https://github.com/karchinlab/open-cravat

A modular annotation tool for genomic variants

annotation-tool bioinformatics bioinformatics-pipeline bioinformatics-tool genomic-data-analysis genomics javascript python python3 variant-analysis variant-annotation variant-annotations

Last synced: 16 May 2025

https://github.com/biothings/myvariant.info

MyVariant.info: A BioThings API for human variant annotations

annotations api bioinformatics biothings ncats-translator variant-annotations variants webservice

Last synced: 29 Dec 2025

https://github.com/bio-ontology-research-group/phenomenet-vp

A phenotype-based tool for variant prioritization in WES and WGS data

disease omim phenotypes prioritize-disease-variants rare-variants synthetic-genomes translationalscience variant-analysis variant-annotations variants vcf-files

Last synced: 25 Jan 2026

https://github.com/pstawinski/pygenebe

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

acmg-guidelines bioinformatics clinvar genetics gnomad hgvs python variant-annotations vep-annotation

Last synced: 14 Jan 2026

https://github.com/laurensvdwiel/metadome

MetaDome is aimed at professionals in the (bio-)medical field of human genetics who wish to visualize the position of their mutation of interest in the context of general population-based genetic variation and provide detailed information of pathogenic variants found across homologous domain positions.

domain-homology gene-annotation genes genetic-tolerance genetics pathogenic-variants pathogenicity protein-annotation protein-domains proteins variant-annotations variant-interpretation