ga4gh / vrsLinks
Extensible specification for representing and uniquely identifying biological sequence variation
☆94Updated last week
Alternatives and similar repositories for vrs
Users that are interested in vrs are comparing it to the libraries listed below
Sorting:
- GA4GH Variation Representation Python Implementation☆61Updated this week
- An information model for representing variant annotations.☆25Updated this week
- Annotation of VCF variants with functional impact and from databases (executable+library)☆63Updated last week
- A collection of reusable WDL tasks. Category:Other☆88Updated this week
- Allelic decomposition and exact genotyping of highly polymorphic and structurally variant genes☆66Updated last month
- A modular annotation tool for genomic variants☆139Updated this week
- Universal Transcript Archive: comprehensive genome-transcript alignments; multiple transcript sources, versions, and alignment methods; a…☆71Updated last month
- VarSim: A high-fidelity simulation validation framework for high-throughput genome sequencing with cancer applications☆90Updated last year
- Collect of SO Ontologies☆102Updated 3 months ago
- C++ Library to parse Illumina InterOp files☆79Updated 3 weeks ago
- The nimble & robust variant annotator☆188Updated last year
- Annotate models of genetic inheritance patterns in variant files (vcf files)☆84Updated 3 months ago
- VCF visualization interface☆175Updated this week
- A Python package for pharmacogenomics (PGx) research☆81Updated last month
- Transcript versions for HGVS libraries☆33Updated last month
- Public repository for VariantValidator project☆79Updated this week
- Documentation and description of AWS iGenomes S3 resource.☆118Updated last year
- Calling star alleles in highly polymorphic pharmacogenes (e.g. CYP450 genes) by leveraging genome graph-based variant detection.☆34Updated last month
- Scalable gVCF merging and joint variant calling for population sequencing projects☆174Updated last year
- a Medical Genetics Sequence Analysis Pipeline☆84Updated last week
- A structural variation pipeline for short-read sequencing☆197Updated this week
- Web application to collect and visualise data across multiple MultiQC runs.☆95Updated last year
- A Tool to Annotate and Prioritize Exome Variants☆232Updated this week
- This repository contains information about latest release from Genome in a Bottle project☆75Updated 6 years ago
- Read visualizer for structural variants☆84Updated 7 years ago
- CLI for interacting with Cromwell servers☆55Updated last year
- ABRA2☆95Updated 3 years ago
- ☆82Updated 7 years ago
- A comprehensive cancer DNA/RNA analysis and reporting pipeline☆97Updated last week
- Detection of copy number changes in Germline/Trio/Somatic contexts in NGS data☆91Updated 2 months ago