Alternatives and similar repositories for hgvslib:

Users that are interested in hgvslib are comparing it to the libraries listed below

• biocommons / uta
  Universal Transcript Archive: comprehensive genome-transcript alignments; multiple transcript sources, versions, and alignment methods; a…
  ☆62Updated 2 months ago
• SACGF / cdot
  Transcript versions for HGVS libraries
  ☆29Updated this week
• rgcgithub / clamms
  CLAMMS is a scalable tool for detecting common and rare copy number variants from whole-exome sequencing data.
  ☆29Updated 3 years ago
• eilbecklab / clinvar-miner
  Website to analyze conflicting assertions in ClinVar
  ☆17Updated 11 months ago
• TheJacksonLaboratory / LIRICAL
  LIkelihood Ratio Interpretation of Clinical AbnormaLities
  ☆24Updated 6 months ago
• Genotek / ClassifyCNV
  ClassifyCNV: a tool for clinical annotation of copy-number variants
  ☆60Updated last year
• moonso / vcf_parser
  Simple vcf parser, based on PyVCF
  ☆46Updated 6 years ago
• jeremymcrae / clinical-filter
  filtering trio-based genetic variants in VCFs for clinical review
  ☆21Updated 4 years ago
• PGDX / cerebro-paper
  ☆23Updated 6 years ago
• Clinical-Genomics / BALSAMIC
  Bioinformatic Analysis pipeLine for SomAtic Mutations In Cancer
  ☆45Updated this week
• sigven / vcf2tsvpy
  Genomic VCF to tab-separated values
  ☆48Updated last year
• BD2KGenomics / toil-scripts
  Toil workflows for common genomic pipelines
  ☆33Updated 5 years ago
• statgen / gotcloud
  Genomes on the Cloud, Mapping & Variant Calling Pipelines
  ☆33Updated 7 years ago
• openwdl / workflow-template-wdl
  ☆9Updated 2 months ago
• quinlan-lab / vcf2db
  create a gemini-compatible database from a VCF
  ☆56Updated 4 years ago
• Yandell-Lab / VVP-pub
  VVP (VAAST Variant Prioritizer) rapidly prioritizes genetic variants
  ☆19Updated 6 years ago
• PapenfussLab / PathOS
  PathOS is a clinical application for filtering, analysing and reporting on NGS variants
  ☆28Updated 3 years ago
• aryeelab / umi
  Preprocessing tools for unique molecular index (UMI) sequencing reads
  ☆31Updated last year
• ckandoth / variant-filter
  A false-positive filter for variants called from massively parallel sequencing
  ☆29Updated 7 years ago
• bjhall / upd
  Basic UPD caller
  ☆11Updated 3 years ago
• Clinical-Genomics / MIP
  Mutation Identification Pipeline. Read the latest documentation:
  ☆44Updated 10 months ago
• Clinical-Genomics / chanjo
  Chanjo provides a better way to analyze coverage data in clinical sequencing.
  ☆50Updated last month
• biopet / biopet
  Biopet docs
  ☆17Updated 6 years ago
• Illumina / witty.er
  What is true, thank you, ernestly. A large variant benchmarking tool analogous to hap.py for small variants.
  ☆30Updated last year
• biocommons / biocommons.seqrepo
  non-redundant, compressed, journalled, file-based storage for biological sequences
  ☆40Updated this week
• macarthur-lab / gnomad_browser
  gnomAD browser pre-ASHG 2018
  ☆33Updated 4 years ago
• Clinical-Genomics / genmod
  Annotate models of genetic inheritance patterns in variant files (vcf files)
  ☆78Updated last month
• brentp / rare-disease-wf
  (WIP) best-practices workflow for rare disease
  ☆59Updated 6 months ago
• cancervariants / metakb
  Central repository for the VICC metakb web application
  ☆15Updated last week
• WGLab / phenolyzer
  phenotype-based prioritization of candidate genes for human diseases
  ☆65Updated last year