Topic: "variant-prioritization"
varfish-org/varfish-server
VarFish: comprehensive DNA variant analysis for diagnostics and research
Language: Python - Size: 60.9 MB - Last synced at: 13 days ago - Pushed at: 13 days ago - Stars: 47 - Forks: 10

varfish-org/mehari
VEP-like tool for sequence ontology and HGVS annotation of VCF files
Language: Rust - Size: 5.79 MB - Last synced at: 5 days ago - Pushed at: 5 days ago - Stars: 19 - Forks: 1

varfish-org/hgvs-rs
A port of biocommons/hgvs to the Rust programming language
Language: Rust - Size: 1.18 MB - Last synced at: 26 days ago - Pushed at: 26 days ago - Stars: 13 - Forks: 5

varfish-org/annonars
Genome annotation based on Rust and RocksDB
Language: Rust - Size: 19.4 MB - Last synced at: 5 days ago - Pushed at: 5 days ago - Stars: 7 - Forks: 0

varfish-org/varfish-docker-compose-legacy
Setup VarFish as using Docker Compose
Language: Makefile - Size: 50.8 KB - Last synced at: 3 months ago - Pushed at: over 1 year ago - Stars: 5 - Forks: 2

varfish-org/seqrepo-rs
A port of biocommons/seqrepo to the Rust programming language
Language: Rust - Size: 157 KB - Last synced at: 29 days ago - Pushed at: 3 months ago - Stars: 4 - Forks: 1

varfish-org/varfish-db-downloader
Download public databases for VarFish
Language: Python - Size: 2.27 MB - Last synced at: about 2 months ago - Pushed at: about 2 months ago - Stars: 3 - Forks: 2

varfish-org/varfish-server-worker
Rust-based background worker for varfish-server
Language: Rust - Size: 3.68 MB - Last synced at: 5 days ago - Pushed at: 5 days ago - Stars: 2 - Forks: 1

varfish-org/varfish-cli
VarFish REST API client (CLI + Python package)
Language: Python - Size: 356 KB - Last synced at: about 1 year ago - Pushed at: about 1 year ago - Stars: 2 - Forks: 3

varfish-org/annonars-data-clinvar
Clinvar data builds for annonars
Language: HCL - Size: 89.8 KB - Last synced at: 5 days ago - Pushed at: 5 days ago - Stars: 1 - Forks: 0

varfish-org/cadd-rest-api
Simple REST API wrapper for CADD-scripts
Language: Python - Size: 1.36 MB - Last synced at: 5 months ago - Pushed at: 5 months ago - Stars: 1 - Forks: 0

IBCHgenomic/genovaranno
Variant annotation human genomics
Language: Rust - Size: 312 KB - Last synced at: 1 day ago - Pushed at: 1 day ago - Stars: 0 - Forks: 0

varfish-org/rocksdb-utils-lookup
Utilities for using RocksDB as read-only lookup table (after initial bulk import)
Language: Rust - Size: 158 KB - Last synced at: 10 days ago - Pushed at: 11 days ago - Stars: 0 - Forks: 0

varfish-org/cada-prio
Re-implementation of the CADA phenotype-based prioritization algorithm
Language: Python - Size: 102 KB - Last synced at: 13 days ago - Pushed at: 13 days ago - Stars: 0 - Forks: 0

varfish-org/viguno
Versatile Interface for Genetics Utilization of Nice Ontologies
Language: Rust - Size: 552 KB - Last synced at: 5 months ago - Pushed at: 5 months ago - Stars: 0 - Forks: 0

varfish-org/varfish-installer
Script and Docker container for VarFish installation and data download
Language: Python - Size: 64.5 KB - Last synced at: 9 months ago - Pushed at: 9 months ago - Stars: 0 - Forks: 0

varfish-org/varfish-docker-compose-ng
(Next-generation; in-development) VarFish Docker Compose
Language: Shell - Size: 103 KB - Last synced at: 10 months ago - Pushed at: 10 months ago - Stars: 0 - Forks: 0

varfish-org/scarus
Automated evaluation of ACMG rules
Language: Rust - Size: 6.16 MB - Last synced at: about 1 year ago - Pushed at: about 1 year ago - Stars: 0 - Forks: 0

varfish-org/varfish-dev-docs
VarFish software development documentation
Language: Makefile - Size: 34.2 KB - Last synced at: about 1 year ago - Pushed at: about 1 year ago - Stars: 0 - Forks: 0

varfish-org/varfish-data-igsr
Repository for building IGSR data sets for use in VarFish
Language: Python - Size: 60.5 KB - Last synced at: over 1 year ago - Pushed at: over 1 year ago - Stars: 0 - Forks: 0

varfish-org/biocommons-bioutils-rs
(Partial) port of biocommons/bioutils to Rust
Language: Rust - Size: 218 KB - Last synced at: about 1 year ago - Pushed at: over 1 year ago - Stars: 0 - Forks: 0
