Topic: "variant-filtration"
charite/jannovar
Annotation of VCF variants with functional impact and from databases (executable+library)
Language: Java - Size: 23.7 MB - Last synced at: 9 days ago - Pushed at: 9 days ago - Stars: 59 - Forks: 35
varfish-org/varfish-server
VarFish: comprehensive DNA variant analysis for diagnostics and research
Language: Python - Size: 60.9 MB - Last synced at: 10 days ago - Pushed at: 10 days ago - Stars: 47 - Forks: 10
sigven/vcf2tsvpy
Genomic VCF to tab-separated values
Language: Python - Size: 59.6 KB - Last synced at: over 1 year ago - Pushed at: about 2 years ago - Stars: 41 - Forks: 11
varfish-org/mehari
VEP-like tool for sequence ontology and HGVS annotation of VCF files
Language: Rust - Size: 5.79 MB - Last synced at: 2 days ago - Pushed at: 2 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: 23 days ago - Pushed at: 23 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: 2 days ago - Pushed at: 2 days ago - Stars: 7 - 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 at: 5 days ago - Pushed at: 7 months ago - Stars: 6 - Forks: 0
elowy01/vcf_filtering
Filter a VCF to discard false positive variants
Language: Python - Size: 72.3 KB - Last synced at: about 2 years ago - Pushed at: over 3 years ago - Stars: 6 - 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: about 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: 26 days ago - Pushed at: 3 months ago - Stars: 4 - Forks: 1
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 at: 3 months ago - Pushed at: over 4 years ago - Stars: 4 - Forks: 0
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
genomics-geek/ngs-filters
Collection of expressions that can be used in slivar
Language: JavaScript - Size: 121 KB - Last synced at: almost 2 years ago - Pushed at: almost 5 years ago - Stars: 3 - Forks: 0
varfish-org/varfish-server-worker
Rust-based background worker for varfish-server
Language: Rust - Size: 3.68 MB - Last synced at: 2 days ago - Pushed at: 2 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: 2 days ago - Pushed at: 2 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
shanghungshih/vcf-filter
multi-anchors filtering and multi-threads implementation for vcf filtering
Language: Python - Size: 630 KB - Last synced at: over 1 year ago - Pushed at: almost 6 years ago - Stars: 1 - Forks: 0
shanghungshih/GVCFiltering
Filtering vcf with population gvcf
Language: Java - Size: 125 KB - Last synced at: over 1 year ago - Pushed at: about 6 years ago - Stars: 1 - 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: 7 days ago - Pushed at: 8 days ago - Stars: 0 - Forks: 0
IBCHgenomic/eVaiutilities
eVaianalyzer for human genomics
Language: Rust - Size: 42.1 MB - Last synced at: 9 days ago - Pushed at: 10 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: 9 days ago - Pushed at: 10 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
anand-imcm/get-variant-info
A WDL-based workflow for extraction of variants and their associated info from large VCF files
Language: Python - Size: 58.6 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: about 1 year ago - Pushed at: about 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: about 1 year ago - Stars: 0 - Forks: 0
varfish-org/varfish-cli-ng
(Upcoming) aws smithy based client for VarFish
Language: Dockerfile - Size: 131 KB - Last synced at: about 1 year ago - Pushed at: over 1 year ago - Stars: 0 - Forks: 0
MBeyens/pyAmpli
pyAmpli: an amplicon-based variant filter pipeline for targeted enriched resequencing data
Language: Python - Size: 78.1 KB - Last synced at: over 1 year ago - Pushed at: over 2 years ago - Stars: 0 - Forks: 0
maxim-k/PyVep
Python wrapper and web-server for Ensembl VEP
Language: Python - Size: 84 KB - Last synced at: over 1 year ago - Pushed at: about 8 years ago - Stars: 0 - Forks: 0
