Alternatives and similar repositories for va-spec

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

• TheJacksonLaboratory / LIRICAL
  LIkelihood Ratio Interpretation of Clinical AbnormaLities
  ☆29Updated last week
• ga4gh / vrs
  Extensible specification for representing and uniquely identifying biological sequence variation
  ☆88Updated 2 months ago
• ga4gh / vrs-python
  GA4GH Variation Representation Python Implementation
  ☆57Updated this week
• SACGF / cdot
  Transcript versions for HGVS libraries
  ☆31Updated this week
• bio-ontology-research-group / phenomenet-vp
  A phenotype-based tool for variant prioritization in WES and WGS data
  ☆38Updated 2 years ago
• macarthur-lab / gnomad_browser
  gnomAD browser pre-ASHG 2018
  ☆33Updated 4 years ago
• macarthur-lab / omim
  Repo for downloading and storing OMIM data
  ☆19Updated 8 years ago
• GeneDx / txt2hpo
  Python library for extracting HPO encoded phenotypes from text
  ☆30Updated last year
• grst / snakemake_nextflow_wdl
  simple comparison of snakemake, nextflow and cromwell/wdl
  ☆49Updated 4 years ago
• OHMI-ontology / OHMI
  OHMI: The Ontology of Host-Microbiome Interactions
  ☆12Updated 3 years ago
• SciLifeLab / TIDDIT
  TIDDIT - structural variant calling
  ☆73Updated 2 months ago
• monarch-initiative / Squirls
  Interpretable prioritization of splice variants in diagnostic next-generation sequencing
  ☆17Updated last year
• The-Sequence-Ontology / SO-Ontologies
  Collect of SO Ontologies
  ☆100Updated 7 months ago
• Clinical-Genomics / MIP
  Mutation Identification Pipeline. Read the latest documentation:
  ☆44Updated last year
• monarch-initiative / pyphetools
  Python Phenopacket Tools
  ☆14Updated 5 months ago
• linsalrob / SRA_Metadata
  Get, parse, and extract information from the SRA metadata files
  ☆42Updated 2 years ago
• Illumina / GraphAlignmentViewer
  ☆35Updated 3 years ago
• jeremymcrae / hpo_similarity
  Analysis of similarity of HPO terms in groups of individuals
  ☆25Updated 3 years ago
• Illumina / Polaris
  Data and information about the Polaris study
  ☆53Updated 5 years ago
• BioContainers / multi-package-containers
  Testing building mulled containers for multi-requirement tools.
  ☆75Updated last week
• nf-core / variantbenchmarking
  Pipeline to evaluate and validate the accuracy of variant calling methods in genomic research
  ☆29Updated this week
• Clinical-Genomics / BALSAMIC
  Bioinformatic Analysis pipeLine for SomAtic Mutations In Cancer
  ☆47Updated this week
• deaconjs / ThousandVariantCallersRepo
  Thousand Variant Callers Project Repository
  ☆73Updated 5 years ago
• SBIMB / StellarPGx
  Calling star alleles in highly polymorphic pharmacogenes (e.g. CYP450 genes) by leveraging genome graph-based variant detection.
  ☆34Updated last month
• fakedrtom / SVAFotate
  ☆41Updated 9 months ago
• LBGC-CFB / SPiP
  Splicing Prediction Pipeline
  ☆15Updated last year
• eilbecklab / clinvar-miner
  Website to analyze conflicting assertions in ClinVar
  ☆18Updated last year
• statgen / gotcloud
  Genomes on the Cloud, Mapping & Variant Calling Pipelines
  ☆34Updated 8 years ago
• refgenie / refgenie
  Reference genome resource manager
  ☆76Updated last year
• GeneDx / scramble
  ☆39Updated last year