Annotation of VCF variants with functional impact and from databases (executable+library)
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Updated
Nov 25, 2024 - Java
Annotation of VCF variants with functional impact and from databases (executable+library)
Genomic VCF to tab-separated values
VarFish: comprehensive DNA variant analysis for diagnostics and research
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
(Legacy) Annotate variants for import into VarFish server.
A collection of software to work with genomic variants
Setup VarFish as using Docker Compose
A port of biocommons/seqrepo to the Rust programming language
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…
Collection of expressions that can be used in slivar
Download public databases for VarFish
VarFish REST API client (CLI + Python package)
Rust-based background worker for varfish-server
Simple REST API wrapper for CADD-scripts
multi-anchors filtering and multi-threads implementation for vcf filtering
VarFish (Snakemake) Client Workflow for Querying Snakemake
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