Transcript versions for HGVS libraries
☆33Oct 24, 2025Updated 4 months ago
Alternatives and similar repositories for cdot
Users that are interested in cdot are comparing it to the libraries listed below
Sorting:
- A port of biocommons/hgvs to the Rust programming language☆16Jan 30, 2026Updated last month
- A crate for working with genomics chain files.☆12Aug 6, 2025Updated 6 months ago
- Universal Transcript Archive: comprehensive genome-transcript alignments; multiple transcript sources, versions, and alignment methods; a…☆71Feb 6, 2026Updated 3 weeks ago
- non-redundant, compressed, journalled, file-based storage for biological sequences☆47Nov 10, 2025Updated 3 months ago
- Lightweight, portable variation registration and retrieval☆16Updated this week
- An information model for representing variant annotations.☆27Feb 21, 2026Updated last week
- VariantGrid public repo☆24Updated this week
- VEP-like tool for sequence ontology and HGVS annotation of VCF files☆25Updated this week
- Services and guidelines for normalizing variants☆15Updated this week
- HGVS variant name parsing and generation☆176Jun 14, 2023Updated 2 years ago
- Extensible specification for representing and uniquely identifying biological sequence variation☆96Updated this week
- Simple matching of HTS samples based on HLA typing☆14Jan 4, 2017Updated 9 years ago
- Python library to parse, format, validate, normalize, and map sequence variants according to HGVS Nomenclature (https://hgvs-nomenclature…☆289Feb 10, 2026Updated 2 weeks ago
- Central repository for the VICC metakb web application☆15Updated this week
- Python client for GA4GH htsget protocol☆15Nov 7, 2022Updated 3 years ago
- hgvslib provides functions to parse and compare the equivalency of variant strings described according to Human Genome Variation Society …☆18Dec 26, 2022Updated 3 years ago
- VarFish: comprehensive DNA variant analysis for diagnostics and research☆52Updated this week
- ☆29Oct 14, 2025Updated 4 months ago
- A bioinformatics best-practice analysis pipeline for calling structural variants (SVs), copy number variants (CNVs) and repeat region exp…☆27Updated this week
- Copy Number Methods for Detection and Genome Wide Association Tests☆22Nov 4, 2024Updated last year
- A Node.js framework for extracting mCODE FHIR resources☆23Dec 12, 2023Updated 2 years ago
- Structural variant benchmark☆22Mar 4, 2025Updated 11 months ago
- TransVar - multiway annotator for precision medicine☆126Apr 19, 2023Updated 2 years ago
- SQL support plugin for Nextflow☆32Sep 15, 2025Updated 5 months ago
- Efficient variant-call data storage and retrieval library using the TileDB storage library.☆104Feb 12, 2026Updated 2 weeks ago
- Open Source implementation of the GA4GH htsget protocol for objects stored in Google Cloud Storage☆25Nov 19, 2019Updated 6 years ago
- CIViC is an open access, open source, community-driven web resource for Clinical Interpretation of Variants in Cancer☆29Updated this week
- Dynamically generate Pydantic classes from JSONschema☆26Aug 29, 2022Updated 3 years ago
- 🧬 High-performance VCF file parser and reformatter with VEP annotation support. Converts complex VCF files to analyzable TSV format …☆45Aug 15, 2025Updated 6 months ago
- TNER: Tri-Nucleotide Error Reducer for ctDNA detection☆21Aug 23, 2019Updated 6 years ago
- GA4GH Variation Representation Python Implementation☆61Feb 13, 2026Updated 2 weeks ago
- provides common tools and lookup tables used primarily by the hgvs and uta packages☆25Jan 12, 2026Updated last month
- Work with bioinformatic files using Arrow, Polars, and/or DuckDB☆195Mar 10, 2025Updated 11 months ago
- Genotype Representation Graph Library☆41Updated this week
- 📮 An integrative registry of biological databases, ontologies, and nomenclatures.☆140Updated this week
- ClinVar aggregates information about genomic variation and its relationship to human health. Contact us at 'clinvar@ncbi.nlm.nih.gov…☆82Feb 19, 2026Updated last week
- Ancestry and Kinship Tools☆70Nov 16, 2022Updated 3 years ago
- Scripts involved in our workflow for detecting CNVs from WGS data using read depth-based methods☆46Sep 20, 2022Updated 3 years ago
- ☆32Dec 6, 2017Updated 8 years ago