VarFish: comprehensive DNA variant analysis for diagnostics and research

VEP-like tool for sequence ontology and HGVS annotation of VCF files

A port of biocommons/hgvs to the Rust programming language

Genome annotation based on Rust and RocksDB

(Legacy) Annotate variants for import into VarFish server.

A port of biocommons/seqrepo to the Rust programming language

Setup VarFish as using Docker Compose

Download public databases for VarFish

VarFish REST API client (CLI + Python package)

Rust-based background worker for varfish-server

(Partial) port of biocommons/bioutils to Rust

DEPRECATED, use https://github.com/bihealth/varfish-docker-compose instead

DEPRECATED Convert annotation database files to Var:fish: import format

Clinvar data builds for annonars

Simple REST API wrapper for CADD-scripts

VarFish (Snakemake) Client Workflow for Querying Snakemake

Repository for building IGSR data sets for use in VarFish

AI-Based-approach-for-prioritization-of-genetic-mutations is a modular platform for prioritizing genetic variants using machine learning, deep learning, and ensemble models. It features data pipelines, uncertainty quantification, gene-level ranking, and a Flask web app for interactive and batch predictions.

VarFish (Snakemake) Client Workflow for Validation

exact point variant annotation