Python library to parse, format, validate, normalize, and map sequence variants according to HGVS Nomenclature (https://hgvs-nomenclature.org/).
☆290Apr 17, 2026Updated last month
Alternatives and similar repositories for hgvs
Users that are interested in hgvs are comparing it to the libraries listed below. We may earn a commission when you buy through links labeled 'Ad' on this page.
Sorting:
- Universal Transcript Archive: comprehensive genome-transcript alignments; multiple transcript sources, versions, and alignment methods; a…☆72Mar 24, 2026Updated 2 months ago
- non-redundant, compressed, journalled, file-based storage for biological sequences☆52Nov 10, 2025Updated 7 months ago
- HGVS variant name parsing and generation☆177Jun 14, 2023Updated 3 years ago
- provides common tools and lookup tables used primarily by the hgvs and uta packages☆25Jan 12, 2026Updated 5 months ago
- Extensible specification for representing and uniquely identifying biological sequence variation☆96Apr 23, 2026Updated last month
- Deploy on Railway without the complexity - Free Credits Offer • AdConnect your repo and Railway handles the rest with instant previews. Quickly provision container image services, databases, and storage volumes.
- HGVS variant nomenclature checker☆99May 1, 2023Updated 3 years ago
- Tool suite for HGVS variant descriptions☆50Apr 17, 2026Updated last month
- TransVar - multiway annotator for precision medicine☆129Apr 19, 2023Updated 3 years ago
- The Ensembl Variant Effect Predictor predicts the functional effects of genomic variants☆559Updated this week
- MyVariant.info: A BioThings API for human variant annotations☆98Sep 10, 2025Updated 9 months ago
- phenotype-based prioritization of candidate genes for human diseases☆64Jan 25, 2023Updated 3 years ago
- Strelka2 germline and somatic small variant caller☆394Apr 20, 2026Updated last month
- annotate a VCF with other VCFs/BEDs/tabixed files☆407May 1, 2026Updated last month
- Canvas - Copy number variant (CNV) calling from DNA sequencing data☆129Apr 20, 2026Updated last month
- Proton VPN Special Offer - Get 70% off • AdSpecial partner offer. Trusted by over 100 million users worldwide. Tested, Approved and Recommended by Experts.
- Personal Cancer Genome Reporter (PCGR)☆279Updated this week
- A bioinformatics software tool for clinical interpretation of genetic variants by the 2015 ACMG-AMP guideline☆209May 28, 2023Updated 3 years ago
- Annotation of VCF variants with functional impact and from databases (executable+library)☆66Jun 8, 2026Updated last week
- Microsatellite Instability (MSI) detection using high-throughput sequencing data.☆116Apr 2, 2025Updated last year
- Lightweight, portable variation registration and retrieval☆16Updated this week
- Embeddable genomic visualization component based on the Integrative Genomics Viewer☆724Jun 1, 2026Updated 2 weeks ago
- The nimble & robust variant annotator☆197Apr 20, 2026Updated last month
- VerifyBamID2: A robust tool for DNA contamination estimation from sequence reads using ancestry-agnostic method.☆102Apr 19, 2026Updated last month
- a lightweight db framework for exploring genetic variation.☆329Apr 28, 2020Updated 6 years ago
- Managed hosting for WordPress and PHP on Cloudways • AdManaged hosting for WordPress, Magento, Laravel, or PHP apps, on multiple cloud providers. Deploy in minutes on Cloudways by DigitalOcean.
- ☆69Jun 21, 2022Updated 3 years ago
- Haplotype VCF comparison tools☆469Dec 7, 2023Updated 2 years ago
- WIP : regular expressions for identifying and extracting values from HGVS nomenclature☆14Apr 15, 2018Updated 8 years ago
- lumpy: a general probabilistic framework for structural variant discovery☆342Feb 22, 2026Updated 3 months ago
- Structural variant and indel caller for mapped sequencing data☆467Oct 11, 2025Updated 8 months ago
- fast sample-swap and relatedness checks on BAMs/CRAMs/VCFs/GVCFs... "like damn that is one smart wine guy"☆320Apr 24, 2026Updated last month
- CAVA (Clinical Annotation of VAriants)☆14Sep 28, 2018Updated 7 years ago
- igv.js standalone page generator and automatic configuration to view bam/cram/vcf/bed. "working in under 1 minute"☆133Oct 14, 2025Updated 8 months ago
- Somatic and germline variant caller for amplicon data. Recommended caller for tumor-only workflows.☆99Apr 20, 2026Updated last month
- Virtual machines for every use case on DigitalOcean • AdGet dependable uptime with 99.99% SLA, simple security tools, and predictable monthly pricing with DigitalOcean's virtual machines, called Droplets.
- Public repository for VariantValidator project☆81Updated this week
- A Tool to Annotate and Prioritize Exome Variants☆258Updated this week
- A port of biocommons/hgvs to the Rust programming language☆18Jun 8, 2026Updated last week
- ClassifyCNV: a tool for clinical annotation of copy-number variants☆73Jun 26, 2023Updated 2 years ago
- A tool set for short variant discovery in genetic sequence data.☆206May 4, 2021Updated 5 years ago
- RTG Tools: Utilities for accurate VCF comparison and manipulation☆335May 27, 2025Updated last year
- Copy number variant detection from targeted DNA sequencing☆612Jun 9, 2026Updated last week