Alternatives and similar repositories for va-spec

Users that are interested in va-spec are comparing it to the libraries listed below

• ga4gh / vrs
  Extensible specification for representing and uniquely identifying biological sequence variation
  ☆94Updated last month
• ga4gh / vrs-python
  GA4GH Variation Representation Python Implementation
  ☆60Updated this week
• TheJacksonLaboratory / LIRICAL
  LIkelihood Ratio Interpretation of Clinical AbnormaLities
  ☆29Updated 2 weeks ago
• The-Sequence-Ontology / SO-Ontologies
  Collect of SO Ontologies
  ☆101Updated 2 months ago
• bio-ontology-research-group / phenomenet-vp
  A phenotype-based tool for variant prioritization in WES and WGS data
  ☆39Updated 2 years ago
• KarchinLab / open-cravat
  A modular annotation tool for genomic variants
  ☆138Updated this week
• openvar / variantValidator
  Public repository for VariantValidator project
  ☆78Updated 2 weeks ago
• nf-core / oncoanalyser
  A comprehensive cancer DNA/RNA analysis and reporting pipeline
  ☆93Updated last week
• SACGF / cdot
  Transcript versions for HGVS libraries
  ☆33Updated 3 weeks ago
• GenomicsStandardsConsortium / mixs
  Minimum Information about any (X) Sequence” (MIxS) specification
  ☆55Updated last week
• broadinstitute / gnomad_methods
  Hail helper functions for the gnomAD project and Translational Genomics Group
  ☆97Updated last week
• mribeirodantas / NextflowSnippets
  This repository hosts a large collection of Nextflow snippets
  ☆56Updated 9 months ago
• Clinical-Genomics / genmod
  Annotate models of genetic inheritance patterns in variant files (vcf files)
  ☆84Updated 3 months ago
• biocommons / uta
  Universal Transcript Archive: comprehensive genome-transcript alignments; multiple transcript sources, versions, and alignment methods; a…
  ☆71Updated last month
• grst / snakemake_nextflow_wdl
  simple comparison of snakemake, nextflow and cromwell/wdl
  ☆50Updated 5 years ago
• nf-core / raredisease
  Call and score variants from WGS/WES of rare disease patients.
  ☆112Updated last week
• PGDX / cerebro-paper
  ☆23Updated 7 years ago
• biocommons / biocommons.seqrepo
  non-redundant, compressed, journalled, file-based storage for biological sequences
  ☆47Updated last week
• SBIMB / StellarPGx
  Calling star alleles in highly polymorphic pharmacogenes (e.g. CYP450 genes) by leveraging genome graph-based variant detection.
  ☆34Updated 3 weeks ago
• BioContainers / multi-package-containers
  Testing building mulled containers for multi-requirement tools.
  ☆80Updated 2 weeks ago
• 0xTCG / aldy
  Allelic decomposition and exact genotyping of highly polymorphic and structurally variant genes
  ☆64Updated last month
• igvteam / igv-notebook
  Module for embedding igv.js in an IPython notebook
  ☆80Updated 9 months ago
• bionitio-team / bionitio
  Demonstrating best practices for bioinformatics command line tools
  ☆116Updated 5 years ago
• mutalyzer / mutalyzer
  Tool suite for HGVS variant descriptions
  ☆47Updated last month
• jdidion / atropos
  An NGS read trimming tool that is specific, sensitive, and speedy. (production)
  ☆126Updated 6 months ago
• sigven / gvanno
  Generic human DNA variant annotation pipeline
  ☆59Updated last year
• nf-core / airrflow
  B-cell and T-cell Adaptive Immune Receptor Repertoire (AIRR) sequencing analysis pipeline using the Immcantation framework
  ☆69Updated this week
• PapenfussLab / PathOS
  PathOS is a clinical application for filtering, analysing and reporting on NGS variants
  ☆29Updated 4 years ago
• pachterlab / seqspec
  machine-readable file format for genomic library sequence and structure
  ☆123Updated 2 months ago
• ImperialCardioGenetics / UTRannotator
  VEP Plugin to annotate high-impact five prime UTR variants
  ☆27Updated last year