macarthur-lab / clinvarLinks
This repo provides tools to convert ClinVar data into a tab-delimited flat file, and also provides that resulting tab-delimited flat file.
☆128Updated 5 years ago
Alternatives and similar repositories for clinvar
Users that are interested in clinvar are comparing it to the libraries listed below
Sorting:
- HGVS variant name parsing and generation☆176Updated 2 years ago
- ☆186Updated 2 years ago
- TransVar - multiway annotator for precision medicine☆126Updated 2 years ago
- Browser for ExAC consortium data☆106Updated 3 years ago
- Documentation and description of AWS iGenomes S3 resource.☆119Updated last year
- MuTect -- Accurate and sensitive cancer mutation detection☆101Updated 2 years ago
- MyVariant.info: A BioThings API for human variant annotations☆96Updated 3 months ago
- The Genome Modeling System installer☆78Updated 10 years ago
- Annotate models of genetic inheritance patterns in variant files (vcf files)☆84Updated 2 weeks ago
- Microassembly based somatic variant caller for NGS data☆154Updated 3 years ago
- NGS-pipe: next-generation sequencing pipelines for precision oncology☆114Updated 6 years ago
- List of gene lists for genomic analyses.☆224Updated 3 years ago
- A tool set for short variant discovery in genetic sequence data.☆203Updated 4 years ago
- Plugins for the Ensembl Variant Effect Predictor (VEP)☆163Updated 2 weeks ago
- A modular annotation tool for genomic variants☆139Updated last week
- This repo has been archived, these workflows are still available in the GATK repository under the scripts directory. The workflows are al…☆78Updated 5 years ago
- ☆69Updated 3 years ago
- The nimble & robust variant annotator☆188Updated last year
- HGVS variant nomenclature checker☆98Updated 2 years ago
- C++ Library to parse Illumina InterOp files☆80Updated 2 weeks ago
- DEPRECATED. This tool has been superseded by https://github.com/griffithlab/pVACtools☆61Updated 6 years ago
- A tool for bigWig files.☆118Updated 7 years ago
- VarDict☆201Updated last year
- Finder of Somatic Fusion Genes in RNA-seq data☆148Updated 3 months ago
- Extensible specification for representing and uniquely identifying biological sequence variation☆94Updated this week
- genotype :: ped correspondence check, ancestry check, sex check. directly, quickly on VCF☆144Updated 5 months ago
- Biopieces is a bioinformatic framework of tools easily used and easily created.☆144Updated 7 years ago
- miscellaneous scripts for bioinformatics/genomics that dont merit their own repo.☆182Updated 7 years ago
- ☆83Updated 3 years ago
- An NGS read trimming tool that is specific, sensitive, and speedy. (production)☆126Updated 8 months ago