GeneDx / phenopyLinks
Phenotype comparison tools using semantic similarity.
☆65Updated last year
Alternatives and similar repositories for phenopy
Users that are interested in phenopy are comparing it to the libraries listed below
Sorting:
- Python library for extracting HPO encoded phenotypes from text☆30Updated last year
- phenotype-based prioritization of candidate genes for human diseases☆65Updated 2 years ago
- A phenotype-based tool for variant prioritization in WES and WGS data☆38Updated 2 years ago
- Phenotype driven gene prioritization for HPO☆46Updated 3 years ago
- ☆32Updated 5 months ago
- A combined deep learning tool for automated recognition of human phenotype ontology☆24Updated 2 years ago
- Annotate models of genetic inheritance patterns in variant files (vcf files)☆79Updated 2 months ago
- Repo for downloading and storing OMIM data☆19Updated 8 years ago
- Associations of genomic features, drugs and diseases☆48Updated 2 years ago
- Generic human DNA variant annotation pipeline☆58Updated last year
- ☆21Updated 2 months ago
- A pipeline that takes clinical notes from EHRs and generate phenotype terms, then generate ranked gene list☆37Updated last year
- LIkelihood Ratio Interpretation of Clinical AbnormaLities☆29Updated last week
- WebApp for DNA variants interpretation☆13Updated this week
- simple comparison of snakemake, nextflow and cromwell/wdl☆49Updated 4 years ago
- An Open Platform for Harmonisation & Analysis of Sequencing & Phenotype Data☆33Updated 2 years ago
- Universal RObust Peak Annotator☆16Updated last year
- Library for manipulating genomic variants and predicting their effects☆84Updated 11 months ago
- NGS course☆33Updated 8 years ago
- CADD scripts release for offline scoring. For more information about CADD, please visit our website☆82Updated 3 weeks ago
- Simple vcf parser, based on PyVCF☆46Updated 6 years ago
- Mutation Identification Pipeline. Read the latest documentation:☆44Updated last year
- Framework for integrated analysis and plotting of ChIP/RIP/RNA/*-seq data☆87Updated 4 years ago
- Python client for MyVariant.info web services.☆23Updated 5 months ago
- A Python library to work with, analyze, filter and inspect the Human Phenotype Ontology☆28Updated 3 months ago
- phasing and Allele Specific Expression from RNA-seq☆115Updated 11 months ago
- Annotation of VCF variants with functional impact and from databases (executable+library)☆59Updated last week
- Tissue-specific variant effect predictions on splicing☆42Updated 2 years ago
- A framework for keeping biomedical text mining result up-to-date☆42Updated 4 years ago
- DNAscan is a fast and efficient bioinformatics pipeline that allows for the analysis of DNA Next Generation sequencing data, requiring ve…☆43Updated 3 years ago