Annotation of VCF variants with functional impact and from databases (executable+library)

VarFish: comprehensive DNA variant analysis for diagnostics and research

Genomic VCF to tab-separated values

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

Filter a VCF to discard false positive variants

A collection of software to work with genomic variants

(Legacy) Annotate variants for import into VarFish server.

A port of biocommons/seqrepo to the Rust programming language

Download public databases for VarFish

R script to 1) Extract missense variants that had been observed in "clinical testing" (as opposed to "literature only") in ClinVar. 2) Calculating movability and reappearance parameters using the aggregated and capped Invitae variant counts. 3) Apply the movability and reappearance parameters to ClinVar genes, calculating their movability- and r…

Setup VarFish as using Docker Compose

Variant Standardization, Tabulation, and Operations Library

Collection of expressions that can be used in slivar

Graph-native data management platform for variant genomics

VarFish REST API client (CLI + Python package)

Genome Copilot: AI-Interactive Genomic Visualization + Variant Risk Screening

Rust-based background worker for varfish-server

(Partial) port of biocommons/bioutils to Rust