Alternatives and similar repositories for hgvslib:

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

• eilbecklab / clinvar-miner
  Website to analyze conflicting assertions in ClinVar
  ☆17Updated last year
• ckandoth / variant-filter
  A false-positive filter for variants called from massively parallel sequencing
  ☆29Updated 7 years ago
• SACGF / cdot
  Transcript versions for HGVS libraries
  ☆29Updated last month
• TheJacksonLaboratory / LIRICAL
  LIkelihood Ratio Interpretation of Clinical AbnormaLities
  ☆25Updated 3 weeks ago
• BD2KGenomics / toil-scripts
  Toil workflows for common genomic pipelines
  ☆33Updated 5 years ago
• Clinical-Genomics / MIP
  Mutation Identification Pipeline. Read the latest documentation:
  ☆44Updated 11 months ago
• cancervariants / metakb
  Central repository for the VICC metakb web application
  ☆15Updated this week
• mutalyzer / mutalyzer
  Tool suite for HGVS variant descriptions
  ☆36Updated this week
• sigven / vcf2tsvpy
  Genomic VCF to tab-separated values
  ☆48Updated last year
• biocommons / uta
  Universal Transcript Archive: comprehensive genome-transcript alignments; multiple transcript sources, versions, and alignment methods; a…
  ☆63Updated 2 weeks ago
• rgcgithub / clamms
  CLAMMS is a scalable tool for detecting common and rare copy number variants from whole-exome sequencing data.
  ☆29Updated 4 years ago
• aryeelab / umi
  Preprocessing tools for unique molecular index (UMI) sequencing reads
  ☆31Updated last year
• robinandeer / puzzle
  Variant caller GUI + genetic disease analysis
  ☆22Updated 4 years ago
• jeremymcrae / clinical-filter
  filtering trio-based genetic variants in VCFs for clinical review
  ☆21Updated 4 years ago
• ga4gh / vrs-python
  GA4GH Variation Representation Python Implementation
  ☆53Updated last week
• grst / snakemake_nextflow_wdl
  simple comparison of snakemake, nextflow and cromwell/wdl
  ☆50Updated 4 years ago
• GeneDx / txt2hpo
  Python library for extracting HPO encoded phenotypes from text
  ☆28Updated 9 months ago
• PGDX / cerebro-paper
  ☆23Updated 6 years ago
• statgen / gotcloud
  Genomes on the Cloud, Mapping & Variant Calling Pipelines
  ☆33Updated 7 years ago
• sigven / gvanno
  Generic human DNA variant annotation pipeline
  ☆57Updated last year
• bio-ontology-research-group / phenomenet-vp
  A phenotype-based tool for variant prioritization in WES and WGS data
  ☆37Updated 2 years ago
• Clinical-Genomics / BALSAMIC
  Bioinformatic Analysis pipeLine for SomAtic Mutations In Cancer
  ☆45Updated this week
• PapenfussLab / PathOS
  PathOS is a clinical application for filtering, analysing and reporting on NGS variants
  ☆28Updated 3 years ago
• 0xTCG / aldy
  Allelic decomposition and exact genotyping of highly polymorphic and structurally variant genes
  ☆60Updated last week
• sbg / smart-variant-filtering
  ☆30Updated 4 years ago
• Clinical-Genomics / chanjo
  Chanjo provides a better way to analyze coverage data in clinical sequencing.
  ☆50Updated 2 months ago
• ngsutils / ngsutils
  Tools for next-generation sequencing analysis
  ☆88Updated 5 years ago
• EliLillyCo / pytest-wdl
  WDL plugin for pytest
  ☆48Updated last year
• WGLab / phenolyzer
  phenotype-based prioritization of candidate genes for human diseases
  ☆65Updated 2 years ago
• moonso / vcf_parser
  Simple vcf parser, based on PyVCF
  ☆46Updated 6 years ago