anergictcell / pyhpoLinks
A Python library to work with, analyze, filter and inspect the Human Phenotype Ontology
☆27Updated 2 months ago
Alternatives and similar repositories for pyhpo
Users that are interested in pyhpo are comparing it to the libraries listed below
Sorting:
- Python library for extracting HPO encoded phenotypes from text☆29Updated last year
- ☆32Updated 4 months ago
- LIkelihood Ratio Interpretation of Clinical AbnormaLities☆29Updated last month
- A phenotype-based tool for variant prioritization in WES and WGS data☆38Updated 2 years ago
- A combined deep learning tool for automated recognition of human phenotype ontology☆24Updated 2 years ago
- ☆17Updated 2 years ago
- Clinical interpretation of somatic mutations in cancer☆45Updated 3 months ago
- Associations of genomic features, drugs and diseases☆48Updated 2 years ago
- phenotype-based prioritization of candidate genes for human diseases☆65Updated 2 years ago
- Phenotype driven gene prioritization for HPO☆45Updated 3 years ago
- CADD scripts release for offline scoring. For more information about CADD, please visit our website☆81Updated last week
- Platform for Oncogenomic Reporting and Interpretation (PORI)☆31Updated 11 months ago
- Functional Associations using Variational Autoencoders☆39Updated 4 months ago
- Provided files are a partial extraction of the Orphanet knowledge base on Rare Diseases☆49Updated 6 months ago
- Simulate patients with rare genetic conditions☆21Updated last year
- Collections of GA4GH phenopackets that represent individuals with Mendelian diseases.☆24Updated last week
- An information model for representing variant annotations.☆18Updated last week
- PhenoTagger☆56Updated last year
- Microbial analysis in TCGA data☆91Updated last year
- Repo for downloading and storing OMIM data☆19Updated 8 years ago
- code to run sei and obtain sei and sequence class predictions☆105Updated 2 years ago
- simple comparison of snakemake, nextflow and cromwell/wdl☆49Updated 4 years ago
- ☆15Updated 5 years ago
- SpliceTransformer(SpTransformer) is a deep learning tool to predict tissue specific splicing site from pre-mRNA sequence☆23Updated 6 months ago
- ClinVar Mapping and Annotation Toolkit☆19Updated 2 weeks ago
- A workflow for enhanced protein isoform detection through integration of long-read RNA-seq and mass spectrometry-based proteomics.☆46Updated 2 years ago
- ☆23Updated 6 years ago
- A Tool to Annotate and Prioritize Exome Variants☆213Updated last month
- This method uses shallow Whole Genome Sequencing (sWGS) and the segmentation of a genomic profile to assess the Homologous Recombination …☆34Updated 10 months ago
- Network-based project to explore gene connectivity through biological scales☆23Updated 7 months ago