ga4gh / vrsLinks
Extensible specification for representing and uniquely identifying biological sequence variation
☆94Updated 3 weeks ago
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☆60Updated 2 weeks ago
- A modular annotation tool for genomic variants☆132Updated this week
- An information model for representing variant annotations.☆23Updated this week
- A collection of reusable WDL tasks. Category:Other☆88Updated 2 months ago
- A Tool to Annotate and Prioritize Exome Variants☆231Updated this week
- Collect of SO Ontologies☆101Updated last month
- The nimble & robust variant annotator☆185Updated last year
- Universal Transcript Archive: comprehensive genome-transcript alignments; multiple transcript sources, versions, and alignment methods; a…☆70Updated 2 weeks ago
- Scalable gVCF merging and joint variant calling for population sequencing projects☆171Updated last year
- C++ Library to parse Illumina InterOp files☆79Updated 4 months ago
- Annotate models of genetic inheritance patterns in variant files (vcf files)☆84Updated 2 months ago
- Annotation of VCF variants with functional impact and from databases (executable+library)☆63Updated 2 weeks ago
- Public repository for VariantValidator project☆77Updated 2 weeks ago
- HGVS variant name parsing and generation☆175Updated 2 years ago
- This repository contains information about latest release from Genome in a Bottle project☆75Updated 6 years ago
- TransVar - multiway annotator for precision medicine☆126Updated 2 years ago
- Allelic decomposition and exact genotyping of highly polymorphic and structurally variant genes☆64Updated last week
- Transcript versions for HGVS libraries☆33Updated last week
- ☆82Updated 6 years ago
- VarSim: A high-fidelity simulation validation framework for high-throughput genome sequencing with cancer applications☆90Updated last year
- A Python package for pharmacogenomics (PGx) research☆79Updated 8 months ago
- VCF visualization interface☆172Updated this week
- Documentation and description of AWS iGenomes S3 resource.☆117Updated 10 months ago
- Detection of copy number changes in Germline/Trio/Somatic contexts in NGS data☆91Updated last month
- MyVariant.info: A BioThings API for human variant annotations☆96Updated last month
- ☆182Updated 2 years ago
- Example client programs for Saphetor's VarSome annotation API☆35Updated last month
- Calling star alleles in highly polymorphic pharmacogenes (e.g. CYP450 genes) by leveraging genome graph-based variant detection.☆34Updated last week
- HGVS variant nomenclature checker☆98Updated 2 years ago
- Repository for the GA4GH Benchmarking Team work developing standardized benchmarking methods for germline small variant calls☆205Updated 4 years ago