An open API service providing repository metadata for many open source software ecosystems.

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