ga4gh / va-specLinks
An information model for representing variant annotations.
☆27Updated last week
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
- LIkelihood Ratio Interpretation of Clinical AbnormaLities☆34Updated 2 months ago
- GA4GH Variation Representation Python Implementation☆61Updated this week
- Collect of SO Ontologies☆102Updated 5 months ago
- A Python package for pharmacogenomics (PGx) research☆82Updated last month
- A phenotype-based tool for variant prioritization in WES and WGS data☆41Updated 3 years ago
- A modular annotation tool for genomic variants☆146Updated last week
- OHMI: The Ontology of Host-Microbiome Interactions☆12Updated last month
- Transcript versions for HGVS libraries☆33Updated 3 months ago
- Public repository for VariantValidator project☆79Updated 3 weeks ago
- a Medical Genetics Sequence Analysis Pipeline☆86Updated last week
- Calling star alleles in highly polymorphic pharmacogenes (e.g. CYP450 genes) by leveraging genome graph-based variant detection.☆35Updated 3 months ago
- CADD scripts release for offline scoring. For more information about CADD, please visit our website☆90Updated 3 months ago
- Allelic decomposition and exact genotyping of highly polymorphic and structurally variant genes☆67Updated last month
- Associations of genomic features, drugs and diseases☆48Updated 3 years ago
- Tool suite for HGVS variant descriptions☆48Updated last week
- simple comparison of snakemake, nextflow and cromwell/wdl☆50Updated 5 years ago
- Call and score variants from WGS/WES of rare disease patients.☆114Updated this week
- Pangolin is a deep-learning method for predicting splice site strengths.☆85Updated last year
- Hail helper functions for the gnomAD project and Translational Genomics Group☆100Updated last week
- A Tool to Annotate and Prioritize Exome Variants☆239Updated this week
- MyVariant.info: A BioThings API for human variant annotations☆98Updated 5 months ago
- Mutation Identification Pipeline. Read the latest documentation:☆47Updated 2 months ago
- Annotation of VCF variants with functional impact and from databases (executable+library)☆64Updated last week
- Bioinformatic Analysis pipeLine for SomAtic Mutations In Cancer☆57Updated this week
- Annotate models of genetic inheritance patterns in variant files (vcf files)☆85Updated last month
- TIDDIT - structural variant calling☆78Updated 2 months ago
- Project Manager for NGS data analysis☆31Updated 2 weeks ago
- CICERO: a versatile method for detecting complex and diverse driver fusions using cancer RNA sequencing data.☆41Updated 2 months ago
- dbVar☆40Updated 3 years ago