ga4gh / va-specLinks
An information model for representing variant annotations.
☆25Updated 3 weeks ago
Alternatives and similar repositories for va-spec
Users that are interested in va-spec are comparing it to the libraries listed below
Sorting:
- Extensible specification for representing and uniquely identifying biological sequence variation☆94Updated this week
- GA4GH Variation Representation Python Implementation☆61Updated 2 weeks ago
- Collect of SO Ontologies☆103Updated 3 months ago
- Transcript versions for HGVS libraries☆33Updated 2 months ago
- LIkelihood Ratio Interpretation of Clinical AbnormaLities☆32Updated last month
- simple comparison of snakemake, nextflow and cromwell/wdl☆50Updated 5 years ago
- Public repository for VariantValidator project☆79Updated last week
- A modular annotation tool for genomic variants☆139Updated last week
- Annotate models of genetic inheritance patterns in variant files (vcf files)☆84Updated 2 weeks ago
- A Python package for pharmacogenomics (PGx) research☆81Updated last month
- A phenotype-based tool for variant prioritization in WES and WGS data☆41Updated 3 years ago
- ☆27Updated last year
- A comprehensive cancer DNA/RNA analysis and reporting pipeline☆97Updated 2 weeks ago
- Universal Transcript Archive: comprehensive genome-transcript alignments; multiple transcript sources, versions, and alignment methods; a…☆71Updated 2 months ago
- Hail helper functions for the gnomAD project and Translational Genomics Group☆98Updated 3 weeks ago
- Get, parse, and extract information from the SRA metadata files☆45Updated 3 years ago
- Annotation of VCF variants with functional impact and from databases (executable+library)☆63Updated last week
- ClassifyCNV: a tool for clinical annotation of copy-number variants☆69Updated 2 years ago
- Calling star alleles in highly polymorphic pharmacogenes (e.g. CYP450 genes) by leveraging genome graph-based variant detection.☆34Updated 2 months ago
- Allelic decomposition and exact genotyping of highly polymorphic and structurally variant genes☆66Updated 2 months ago
- Call and score variants from WGS/WES of rare disease patients.☆112Updated last week
- A nextflow pipeline to perform state-of-the-art genome-wide association studies.☆76Updated 2 months ago
- Bioinformatic Analysis pipeLine for SomAtic Mutations In Cancer☆57Updated last week
- TIDDIT - structural variant calling☆78Updated 3 weeks ago
- a Medical Genetics Sequence Analysis Pipeline☆84Updated last week
- OHMI: The Ontology of Host-Microbiome Interactions☆12Updated 2 weeks ago
- Galaxy RNA workbench☆41Updated 5 years ago
- Pipeline to evaluate and validate the accuracy of variant calling methods in genomic research☆36Updated 3 weeks ago
- Mutation Identification Pipeline. Read the latest documentation:☆47Updated last month
- Project Manager for NGS data analysis☆30Updated 3 weeks ago