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

A port of biocommons/seqrepo to the Rust programming language

(Legacy) Annotate variants for import into VarFish server.

Download public databases for VarFish

Setup VarFish as using Docker Compose

VarFish REST API client (CLI + Python package)

Rust-based background worker for varfish-server

(Partial) port of biocommons/bioutils to Rust

Simple REST API wrapper for CADD-scripts

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

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

Clinvar data builds for annonars

VarFish (Snakemake) Client Workflow for Querying Snakemake

VarFish (Snakemake) Client Workflow for Validation

Repository for building IGSR data sets for use in VarFish

eBM: Enhanced BRAIN-MAGNET convolutional neural network modeling non-coding regulatory elements enhancer activity in human neural stem cells

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.