Ecosyste.ms: Repos
An open API service providing repository metadata for many open source software ecosystems.
GitHub topics: variant-filtration
charite/jannovar
Annotation of VCF variants with functional impact and from databases (executable+library)
Language: Java - Size: 23.6 MB - Last synced: 5 days ago - Pushed: 5 days ago - Stars: 54 - Forks: 38
varfish-org/varfish-server
VarFish: comprehensive DNA variant analysis for diagnostics and research
Language: Python - Size: 54.7 MB - Last synced: 4 days ago - Pushed: 5 days ago - Stars: 40 - Forks: 11
anand-imcm/get-variant-info
A WDL-based workflow for extraction of variants and their associated info from large VCF files
Language: Python - Size: 56.6 KB - Last synced: 8 days ago - Pushed: 8 days ago - Stars: 0 - Forks: 0
varfish-org/varfish-cli
VarFish REST API client (CLI + Python package)
Language: Python - Size: 356 KB - Last synced: 26 days ago - Pushed: 27 days ago - Stars: 2 - Forks: 3
varfish-org/seqrepo-rs
A port of biocommons/seqrepo to the Rust programming language
Language: Rust - Size: 125 KB - Last synced: 19 days ago - Pushed: 27 days ago - Stars: 3 - Forks: 1
varfish-org/varfish-dev-docs
VarFish software development documentation
Language: Makefile - Size: 34.2 KB - Last synced: about 2 months ago - Pushed: about 2 months ago - Stars: 0 - Forks: 0
varfish-org/hgvs-rs
A port of biocommons/hgvs to the Rust programming language
Language: Rust - Size: 1.07 MB - Last synced: 21 days ago - Pushed: 27 days ago - Stars: 8 - Forks: 2
varfish-org/annonars
Genome annotation based on Rust and RocksDB
Language: Rust - Size: 18.8 MB - Last synced: 22 days ago - Pushed: 26 days ago - Stars: 5 - Forks: 0
varfish-org/cada-prio
Re-implementation of the CADA phenotype-based prioritization algorithm
Language: Python - Size: 80.1 KB - Last synced: 11 days ago - Pushed: 13 days ago - Stars: 0 - Forks: 0
varfish-org/varfish-docker-compose
Setup VarFish as using Docker Compose
Language: Makefile - Size: 50.8 KB - Last synced: 3 months ago - Pushed: 3 months ago - Stars: 5 - Forks: 5
varfish-org/varfish-data-igsr
Repository for building IGSR data sets for use in VarFish
Language: Python - Size: 60.5 KB - Last synced: 3 months ago - Pushed: 3 months ago - Stars: 0 - Forks: 0
varfish-org/viguno
Versatile Interface for Genetics Utilization of Nice Ontologies
Language: Rust - Size: 441 KB - Last synced: 4 days ago - Pushed: 5 days ago - Stars: 0 - Forks: 0
varfish-org/varfish-db-downloader
Download public databases for VarFish
Language: Python - Size: 2.17 MB - Last synced: 4 days ago - Pushed: about 2 months ago - Stars: 3 - Forks: 3
varfish-org/varfish-docker-compose-ng
(Next-generation; in-development) VarFish Docker Compose
Language: Shell - Size: 90.8 KB - Last synced: 12 days ago - Pushed: 12 days ago - Stars: 0 - Forks: 0
varfish-org/scarus
Automated evaluation of ACMG rules
Language: Rust - Size: 6.16 MB - Last synced: about 2 months ago - Pushed: about 2 months 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: 149 KB - Last synced: 4 days ago - Pushed: 2 months ago - Stars: 0 - Forks: 0
varfish-org/mehari
VEP-like tool for sequence ontology and HGVS annotation of VCF files
Language: Rust - Size: 3.47 MB - Last synced: 5 days ago - Pushed: 5 days ago - Stars: 12 - Forks: 0
varfish-org/biocommons-bioutils-rs
(Partial) port of biocommons/bioutils to Rust
Language: Rust - Size: 218 KB - Last synced: 4 days ago - Pushed: 3 months ago - Stars: 0 - Forks: 0
varfish-org/varfish-server-worker
Rust-based background worker for varfish-server
Language: Rust - Size: 2.7 MB - Last synced: 5 days ago - Pushed: 5 days ago - Stars: 2 - Forks: 0
varfish-org/varfish-cli-ng
(Upcoming) aws smithy based client for VarFish
Language: Dockerfile - Size: 131 KB - Last synced: 3 months ago - Pushed: 4 months ago - Stars: 0 - Forks: 0
rothlab/mave-gene-prioritization
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 reappearance-weighted impact score (MARWIS), as well as their difficulty-adjusted impact score (DAIS). 4) Rank ClinVar genes.
Language: R - Size: 12.3 MB - Last synced: about 1 month ago - Pushed: over 3 years ago - Stars: 4 - Forks: 0
shanghungshih/vcf-filter
multi-anchors filtering and multi-threads implementation for vcf filtering
Language: Python - Size: 630 KB - Last synced: 6 months ago - Pushed: almost 5 years ago - Stars: 1 - Forks: 0
shanghungshih/GVCFiltering
Filtering vcf with population gvcf
Language: Java - Size: 125 KB - Last synced: 6 months ago - Pushed: about 5 years ago - Stars: 1 - Forks: 0
sigven/vcf2tsvpy
Genomic VCF to tab-separated values
Language: Python - Size: 59.6 KB - Last synced: 6 months ago - Pushed: about 1 year ago - Stars: 41 - Forks: 11
maxim-k/PyVep
Python wrapper and web-server for Ensembl VEP
Language: Python - Size: 84 KB - Last synced: 9 months ago - Pushed: about 7 years ago - Stars: 0 - Forks: 0
dbmi-bgm/granite Fork of bgm-cwg/novoCaller
A collection of software to work with genomic variants
Language: Python - Size: 46 MB - Last synced: 21 days ago - Pushed: over 1 year ago - Stars: 5 - Forks: 0
MBeyens/pyAmpli
pyAmpli: an amplicon-based variant filter pipeline for targeted enriched resequencing data
Language: Python - Size: 78.1 KB - Last synced: 6 months ago - Pushed: over 1 year ago - Stars: 0 - Forks: 0
elowy01/vcf_filtering
Filter a VCF to discard false positive variants
Language: Python - Size: 72.3 KB - Last synced: about 1 year ago - Pushed: over 2 years ago - Stars: 6 - Forks: 0
genomics-geek/ngs-filters
Collection of expressions that can be used in slivar
Language: JavaScript - Size: 121 KB - Last synced: 12 months ago - Pushed: almost 4 years ago - Stars: 3 - Forks: 0
