PhenoTagger
☆64Jan 24, 2024Updated 2 years ago
Alternatives and similar repositories for PhenoTagger
Users that are interested in PhenoTagger are comparing it to the libraries listed below
Sorting:
- ☆29Mar 15, 2025Updated 11 months ago
- Phenotype-based Diagnosis Tool for Rare Diseases☆13Updated this week
- A combined deep learning tool for automated recognition of human phenotype ontology☆27Nov 29, 2022Updated 3 years ago
- ☆33Jan 11, 2025Updated last year
- REEV: Explanation and Evaluation of Variants☆11Updated this week
- FLT3-ITD script based on in-silico extension and clustering☆14Jun 9, 2021Updated 4 years ago
- First pass at a thin wrapper around the Monarch API and ChatGPT plugin☆12Mar 21, 2025Updated 11 months ago
- A python library for calculating semantic similarity between patients in N3C☆14Oct 5, 2022Updated 3 years ago
- ☆10Aug 13, 2025Updated 6 months ago
- ☆24Nov 30, 2020Updated 5 years ago
- Repo to organise the mouse-human phenotype mapping initiative and reconcile resources.☆13Jul 30, 2025Updated 7 months ago
- Clinical machine-learning based interpreter of germline mutations.☆12Mar 13, 2025Updated 11 months ago
- A near real-time named-entity recognizer☆64Feb 18, 2026Updated 2 weeks ago
- Collections of GA4GH phenopackets that represent individuals with Mendelian diseases.☆33Feb 23, 2026Updated last week
- Identification of Human Phenotype Entities☆11Nov 2, 2018Updated 7 years ago
- Basic UPD caller☆12Aug 23, 2021Updated 4 years ago
- AIONER☆64Jul 25, 2024Updated last year
- Network Embedding All the Things☆18Oct 4, 2022Updated 3 years ago
- Facial analysis framework for genetic disorders with facial dysmorphism☆12Feb 23, 2025Updated last year
- Python Phenopacket Tools☆16Nov 3, 2025Updated 4 months ago
- GA4GH Quality Control of Whole Genome Sequencing's metrics definition, benchmark resources and reference implementations☆21Feb 25, 2026Updated last week
- ☆13Dec 7, 2021Updated 4 years ago
- RDF Tables in Rust☆17Aug 26, 2022Updated 3 years ago
- Text-mined knowledgebase for drivers, oncogenes and tumor suppressors in cancer☆42Dec 16, 2025Updated 2 months ago
- ☆24Feb 23, 2026Updated last week
- iAnnotateSV is a Python library and command-line software toolkit to annotate and visualize structural variants detected from Next Genera…☆16Dec 31, 2025Updated 2 months ago
- VarFish: comprehensive DNA variant analysis for diagnostics and research☆52Updated this week
- Human mitochondrial variants annotation using HmtVar.☆18Oct 16, 2023Updated 2 years ago
- SVsim: a tool that generates synthetic Structural Variant calls as benchmarks to test/evaluate SV calling pipelines.☆18Dec 4, 2017Updated 8 years ago
- This is the repository for the Python based program for automated deep phenotype analysis of clinical information using large language mo…☆26Sep 30, 2025Updated 5 months ago
- Training materials for Vocabulary & CDM Tutorial.☆22Sep 13, 2019Updated 6 years ago
- a Medical Genetics Sequence Analysis Pipeline☆87Updated this week
- ☆21Aug 30, 2022Updated 3 years ago
- A collection of useful python functions for looking up information and working with the Biolink Model☆24Feb 25, 2026Updated last week
- ☆24Jul 29, 2025Updated 7 months ago
- Grounding of biomedical named entities with contextual disambiguation☆49Feb 13, 2026Updated 3 weeks ago
- phenol: Phenotype ontology library☆25Dec 5, 2025Updated 3 months ago
- Copy Number Variation Detection In Next-generation sequencing Gene panels was designed for small (single-exon) copy number variation (CNV…☆21Jun 30, 2020Updated 5 years ago
- Customizable translation of OBO graphs to dot for visualization using graphviz and other tools☆26Feb 21, 2025Updated last year