Extensible specification for representing and uniquely identifying biological sequence variation
☆96Feb 25, 2026Updated last week
Alternatives and similar repositories for vrs
Users that are interested in vrs are comparing it to the libraries listed below
Sorting:
- GA4GH Variation Representation Python Implementation☆62Feb 24, 2026Updated last week
- An information model for representing variant annotations.☆27Feb 26, 2026Updated last week
- Lightweight, portable variation registration and retrieval☆16Updated this week
- Universal Transcript Archive: comprehensive genome-transcript alignments; multiple transcript sources, versions, and alignment methods; a…☆71Feb 6, 2026Updated 3 weeks ago
- Python library to parse, format, validate, normalize, and map sequence variants according to HGVS Nomenclature (https://hgvs-nomenclature…☆289Feb 10, 2026Updated 3 weeks ago
- Central repository for the VICC metakb web application☆15Feb 27, 2026Updated last week
- Python library & CLI to create, view and edit PFB files☆12Feb 19, 2026Updated 2 weeks ago
- Simple matching of HTS samples based on HLA typing☆14Jan 4, 2017Updated 9 years ago
- A crate for working with genomics chain files.☆12Aug 6, 2025Updated 6 months ago
- Repository for the GA4GH phenopacket schema☆96Jan 20, 2026Updated last month
- non-redundant, compressed, journalled, file-based storage for biological sequences☆47Nov 10, 2025Updated 3 months ago
- Open Source implementation of the GA4GH htsget protocol for objects stored in Google Cloud Storage☆25Nov 19, 2019Updated 6 years ago
- Allele frequency filtering for Mendelian variant discovery☆18Sep 27, 2016Updated 9 years ago
- GA4GH Quality Control of Whole Genome Sequencing's metrics definition, benchmark resources and reference implementations☆21Feb 25, 2026Updated last week
- IndexTools is a toolkit for extremely fast NGS analysis based on index files.☆17Aug 19, 2022Updated 3 years ago
- Transcript versions for HGVS libraries☆33Oct 24, 2025Updated 4 months ago
- Efficient variant-call data storage and retrieval library using the TileDB storage library.☆104Updated this week
- Generate HTML report for a set of genomic regions or DESeq2/edgeR results☆10Jan 14, 2025Updated last year
- Deduplication for cfDNA sequencing data☆11Jul 5, 2017Updated 8 years ago
- CLAMMS is a scalable tool for detecting common and rare copy number variants from whole-exome sequencing data.☆30Feb 20, 2021Updated 5 years ago
- Biopet docs☆17Aug 2, 2018Updated 7 years ago
- Ximmer is a system for CNV calling on exome and targeted genomic sequencing☆19Jan 28, 2026Updated last month
- A set of processes/pipelines for bioinformatics☆14Feb 24, 2026Updated last week
- Clinical Variant Annotation Pipeline☆10Apr 21, 2020Updated 5 years ago
- A python interface for the CIViC db application☆11Feb 19, 2026Updated 2 weeks ago
- Services and guidelines for normalizing variants☆15Updated this week
- Pipeline for Illumina shotgun sequencing of 16S rRNA amplicon sequences☆14Sep 2, 2016Updated 9 years ago
- Extremely fast Variant Call Format annotation☆11Dec 25, 2024Updated last year
- Shiny ClinVar web server source code☆12Apr 29, 2019Updated 6 years ago
- Reference server implementation for the GA4GH HTSget API standard.☆12May 11, 2023Updated 2 years ago
- Read visualizer for structural variants☆84Aug 18, 2018Updated 7 years ago
- Interface to various variant calling formats.☆31Jun 15, 2024Updated last year
- A fast, AVX2 and ARM Neon accelerated FM index library☆36Dec 9, 2024Updated last year
- ☆26Dec 9, 2022Updated 3 years ago
- A scalable genome browser. Apache 2 licensed.☆126Dec 2, 2022Updated 3 years ago
- Metadata schema for the German Human Genome-Phenome Archive (GHGA)☆14Nov 17, 2025Updated 3 months ago
- dv-trio provides a pipeline to call variants for a trio (father-mother-child) using DeepVariants [1]. Genomic Variant Calling Files (gVCF…☆11Feb 3, 2021Updated 5 years ago
- utilities for working with IGV: opening files remotely in either desktop IGV or a web viewer (igv.js), creating screenshots, etc.☆49May 7, 2019Updated 6 years ago
- Automated CWL and Galaxy XML generation for Python tools that use argparse and click☆11Jul 29, 2019Updated 6 years ago