ga4gh / va-spec
An information model for representing variant annotations.
☆18Updated this week
Alternatives and similar repositories for va-spec:
Users that are interested in va-spec are comparing it to the libraries listed below
- simple comparison of snakemake, nextflow and cromwell/wdl☆50Updated 4 years ago
- LIkelihood Ratio Interpretation of Clinical AbnormaLities☆25Updated last month
- non-redundant, compressed, journalled, file-based storage for biological sequences☆40Updated this week
- Extensible specification for representing and uniquely identifying biological sequence variation☆87Updated this week
- A phenotype-based tool for variant prioritization in WES and WGS data☆37Updated 2 years ago
- Transcript versions for HGVS libraries☆30Updated 2 months ago
- gnomAD browser pre-ASHG 2018☆33Updated 4 years ago
- ☆23Updated 3 months ago
- Splicing Prediction Pipeline☆14Updated last year
- Interpretable prioritization of splice variants in diagnostic next-generation sequencing☆16Updated 10 months ago
- dbVar☆41Updated 2 years ago
- Get, parse, and extract information from the SRA metadata files☆38Updated 2 years ago
- TIDDIT - structural variant calling☆74Updated last week
- Merging, Annotation, Validation, and Illustration of Structural variants☆74Updated last year
- A comprehensive cancer DNA/RNA analysis and reporting pipeline☆62Updated this week
- Mutation Identification Pipeline. Read the latest documentation:☆44Updated last year
- Variant Interpretation Pipeline☆23Updated this week
- Test data for MultiQC.☆22Updated last month
- WDL’s and Dockerfiles for assembly QC process☆64Updated last month
- ClassifyCNV: a tool for clinical annotation of copy-number variants☆61Updated last year
- Somatic and germline variant caller for amplicon data. Recommended caller for tumor-only workflows.☆97Updated 2 years ago
- What is true, thank you, ernestly. A large variant benchmarking tool analogous to hap.py for small variants.☆32Updated last year
- Website to analyze conflicting assertions in ClinVar☆18Updated last year
- Genomes on the Cloud, Mapping & Variant Calling Pipelines☆34Updated 8 years ago
- ☆9Updated 5 months ago
- Snakemake-based workflow for detecting structural variants in genomic data☆80Updated last month
- ☆39Updated 11 months ago
- Universal Transcript Archive: comprehensive genome-transcript alignments; multiple transcript sources, versions, and alignment methods; a…☆63Updated last month
- CLAMMS is a scalable tool for detecting common and rare copy number variants from whole-exome sequencing data.☆29Updated 4 years ago
- GA4GH Variation Representation Python Implementation☆53Updated this week