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
  ☆37Updated 2 years ago
• WGLab / Phen2Gene
  Phenotype driven gene prioritization for HPO
  ☆45Updated 3 years ago
• TheJacksonLaboratory / LIRICAL
  LIkelihood Ratio Interpretation of Clinical AbnormaLities
  ☆26Updated 2 months ago
• GeneDx / txt2hpo
  Python library for extracting HPO encoded phenotypes from text
  ☆29Updated 11 months ago
• WGLab / CancerVar
  Clinical interpretation of somatic mutations in cancer
  ☆45Updated last month
• WGLab / phenolyzer
  phenotype-based prioritization of candidate genes for human diseases
  ☆65Updated 2 years ago
• EclipseCN / PhenoBERT
  A combined deep learning tool for automated recognition of human phenotype ontology
  ☆24Updated 2 years ago
• mutalyzer / mutalyzer
  Tool suite for HGVS variant descriptions
  ☆39Updated last week
• grst / snakemake_nextflow_wdl
  simple comparison of snakemake, nextflow and cromwell/wdl
  ☆50Updated 4 years ago
• jeremymcrae / hpo_similarity
  Analysis of similarity of HPO terms in groups of individuals
  ☆25Updated 2 years ago
• statgen / gotcloud
  Genomes on the Cloud, Mapping & Variant Calling Pipelines
  ☆34Updated 8 years ago
• PGDX / cerebro-paper
  ☆23Updated 6 years ago
• broadinstitute / gnomad_qc
  ☆69Updated this week
• gatk-workflows / gatk4-jupyter-notebook-tutorials
  This repository contains Jupyter Notebooks containing GATK Best Practices Workflows
  ☆26Updated 5 years ago
• ncbi / dbvar
  dbVar
  ☆41Updated 2 years ago
• anergictcell / pyhpo
  A Python library to work with, analyze, filter and inspect the Human Phenotype Ontology
  ☆27Updated 3 weeks ago
• Clinical-Genomics / MIP
  Mutation Identification Pipeline. Read the latest documentation:
  ☆44Updated last year
• charite / jannovar
  Annotation of VCF variants with functional impact and from databases (executable+library)
  ☆59Updated this week
• Helix-Research-Lab / PGxPOP
  PGxPOP
  ☆16Updated 2 years ago
• molgenis / capice
  ☆24Updated 3 months ago
• SBIMB / StellarPGx
  Calling star alleles in highly polymorphic pharmacogenes (e.g. CYP450 genes) by leveraging genome graph-based variant detection.
  ☆32Updated this week
• broadinstitute / oncotator
  ☆68Updated 2 years ago
• JiguangPeng / autopvs1
  An automatic classification tool for PVS1 interpretation of null variants
  ☆35Updated last year
• ding-lab / CharGer
  Characterization of Germline variants
  ☆98Updated 3 years ago
• pgxcentre / genipe
  Genome-wide imputation pipeline
  ☆31Updated 8 months ago
• kircherlab / CADD-scripts
  CADD scripts release for offline scoring. For more information about CADD, please visit our website
  ☆78Updated 4 months ago
• ht50 / FLT3_ITD_ext
  FLT3-ITD script based on in-silico extension and clustering
  ☆14Updated 3 years ago
• macarthur-lab / gnomad_browser
  gnomAD browser pre-ASHG 2018
  ☆33Updated 4 years ago
• Genotek / ClassifyCNV
  ClassifyCNV: a tool for clinical annotation of copy-number variants
  ☆61Updated last year
• mhguo1 / TRAPD
  Burden testing against public controls
  ☆50Updated last year