Alternatives and similar repositories for doc2hpo

Users that are interested in doc2hpo are comparing it to the libraries listed below

• bio-ontology-research-group / phenomenet-vp
  A phenotype-based tool for variant prioritization in WES and WGS data
  ☆38Updated 2 years ago
• TheJacksonLaboratory / LIRICAL
  LIkelihood Ratio Interpretation of Clinical AbnormaLities
  ☆29Updated last month
• WGLab / Phen2Gene
  Phenotype driven gene prioritization for HPO
  ☆45Updated 3 years ago
• WGLab / phenolyzer
  phenotype-based prioritization of candidate genes for human diseases
  ☆65Updated 2 years ago
• jeremymcrae / hpo_similarity
  Analysis of similarity of HPO terms in groups of individuals
  ☆25Updated 3 years ago
• EclipseCN / PhenoBERT
  A combined deep learning tool for automated recognition of human phenotype ontology
  ☆24Updated 2 years ago
• GeneDx / txt2hpo
  Python library for extracting HPO encoded phenotypes from text
  ☆29Updated last year
• WGLab / CancerVar
  Clinical interpretation of somatic mutations in cancer
  ☆45Updated 3 months ago
• anergictcell / pyhpo
  A Python library to work with, analyze, filter and inspect the Human Phenotype Ontology
  ☆27Updated 2 months ago
• SBIMB / StellarPGx
  Calling star alleles in highly polymorphic pharmacogenes (e.g. CYP450 genes) by leveraging genome graph-based variant detection.
  ☆34Updated last week
• statgen / gotcloud
  Genomes on the Cloud, Mapping & Variant Calling Pipelines
  ☆34Updated 8 years ago
• broadinstitute / oncotator
  ☆68Updated 2 years ago
• molgenis / capice
  ☆25Updated 6 months ago
• Clinical-Genomics / genmod
  Annotate models of genetic inheritance patterns in variant files (vcf files)
  ☆79Updated last month
• Genotek / ClassifyCNV
  ClassifyCNV: a tool for clinical annotation of copy-number variants
  ☆65Updated last year
• grst / snakemake_nextflow_wdl
  simple comparison of snakemake, nextflow and cromwell/wdl
  ☆49Updated 4 years ago
• mutalyzer / mutalyzer2
  HGVS variant nomenclature checker
  ☆98Updated 2 years ago
• babelomics / SMAca
  SMN1 copy-number and sequence variant analysis from next generation sequencing data
  ☆23Updated 2 years ago
• ncbi / dbvar
  dbVar
  ☆41Updated 2 years ago
• mutalyzer / mutalyzer
  Tool suite for HGVS variant descriptions
  ☆41Updated 2 months ago
• macarthur-lab / omim
  Repo for downloading and storing OMIM data
  ☆19Updated 8 years ago
• Illumina / Pisces
  Somatic and germline variant caller for amplicon data. Recommended caller for tumor-only workflows.
  ☆98Updated 2 years ago
• ga4gh / va-spec
  An information model for representing variant annotations.
  ☆18Updated last week
• JiguangPeng / autopvs1
  An automatic classification tool for PVS1 interpretation of null variants
  ☆35Updated last year
• kircherlab / CADD-scripts
  CADD scripts release for offline scoring. For more information about CADD, please visit our website
  ☆82Updated last week
• Clinical-Genomics / BALSAMIC
  Bioinformatic Analysis pipeLine for SomAtic Mutations In Cancer
  ☆47Updated this week
• Clinical-Genomics / MIP
  Mutation Identification Pipeline. Read the latest documentation:
  ☆44Updated last year
• Illumina / Polaris
  Data and information about the Polaris study
  ☆53Updated 5 years ago
• Illumina / Cyrius
  A tool to genotype CYP2D6 with WGS data
  ☆53Updated last year
• imgag / ClinCNV
  Detection of copy number changes in Germline/Trio/Somatic contexts in NGS data
  ☆85Updated 4 months ago