GeneDx / phenopy
Phenotype comparison tools using semantic similarity.
☆60Updated 6 months ago
Related projects ⓘ
Alternatives and complementary repositories for phenopy
- Python library for extracting HPO encoded phenotypes from text☆27Updated 6 months ago
- phenotype-based prioritization of candidate genes for human diseases☆64Updated last year
- A phenotype-based tool for variant prioritization in WES and WGS data☆37Updated 2 years ago
- ☆32Updated last year
- A metadata commons to store research software metadata☆40Updated this week
- A combined deep learning tool for automated recognition of human phenotype ontology☆20Updated last year
- A framework for keeping biomedical text mining result up-to-date☆41Updated 4 years ago
- Phenotype driven gene prioritization for HPO☆44Updated 3 years ago
- ☆23Updated 3 years ago
- Universal RObust Peak Annotator☆15Updated 11 months ago
- Analysis pipelines for genomic sequencing data☆64Updated last month
- A pipeline that takes clinical notes from EHRs and generate phenotype terms, then generate ranked gene list☆36Updated last year
- Annotate models of genetic inheritance patterns in variant files (vcf files)☆78Updated this week
- WebApp for DNA variants interpretation☆13Updated 3 weeks ago
- Mutation Identification Pipeline. Read the latest documentation:☆44Updated 8 months ago
- Generic human DNA variant annotation pipeline☆56Updated 9 months ago
- ☆19Updated 5 months ago
- This repository contains Jupyter Notebooks containing GATK Best Practices Workflows☆24Updated 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 2 years ago
- Notebooks accompanying the paper "Navigating the pitfalls of applying machine learning in genomics"☆43Updated last year
- GA4GH Variation Representation Python Implementation☆51Updated this week
- simple comparison of snakemake, nextflow and cromwell/wdl☆49Updated 4 years ago
- Repo for downloading and storing OMIM data☆18Updated 8 years ago
- Associations of genomic features, drugs and diseases☆48Updated last year
- Website to analyze conflicting assertions in ClinVar