This repo provides tools to convert ClinVar data into a tab-delimited flat file, and also provides that resulting tab-delimited flat file.
☆131Feb 13, 2020Updated 6 years ago
Alternatives and similar repositories for clinvar
Users that are interested in clinvar are comparing it to the libraries listed below
Sorting:
- List of gene lists for genomic analyses.☆226Jun 24, 2022Updated 3 years ago
- HGVS variant name parsing and generation☆176Jun 14, 2023Updated 2 years ago
- Website to analyze conflicting assertions in ClinVar☆19Jan 24, 2026Updated last month
- HGVS variant description extractor☆11Sep 14, 2020Updated 5 years ago
- A bioinformatics software tool for clinical interpretation of genetic variants by the 2015 ACMG-AMP guideline☆206May 28, 2023Updated 2 years ago
- A tool set for short variant discovery in genetic sequence data.☆204May 4, 2021Updated 4 years ago
- HGVS variant nomenclature checker☆98May 1, 2023Updated 2 years ago
- filtering trio-based genetic variants in VCFs for clinical review☆21Aug 18, 2020Updated 5 years ago
- TransVar - multiway annotator for precision medicine☆126Apr 19, 2023Updated 2 years ago
- tools for adding mutations to existing .bam files, used for testing mutation callers☆247Oct 18, 2024Updated last year
- The Exome Coverage and Identification Report displays the coverage of every target region in your capture design. It also displays regio…☆14Apr 22, 2015Updated 10 years ago
- ☆63Sep 21, 2016Updated 9 years ago
- annotate a VCF with other VCFs/BEDs/tabixed files☆398Aug 30, 2025Updated 6 months ago
- web-based analysis tool for rare disease genomics☆200Updated this week
- genotype :: ped correspondence check, ancestry check, sex check. directly, quickly on VCF☆146Feb 17, 2026Updated 2 weeks ago
- An awk-like VCF parser☆56Jan 2, 2024Updated 2 years ago
- R htmlwidget package for ideogram.js☆15Oct 26, 2022Updated 3 years ago
- Personal Cancer Genome Reporter (PCGR)☆274Oct 7, 2025Updated 4 months ago
- Overall management and deployment of the BRCA Exchange web portal and pipeline scripts