Simulate patients with rare genetic conditions
β24Jul 28, 2023Updated 3 years ago
Alternatives and similar repositories for rare-disease-simulation
Users that are interested in rare-disease-simulation are comparing it to the libraries listed below. We may earn a commission when you buy through links labeled 'Ad' on this page.
Sorting:
- SHEPHERD: Few shot learning for phenotype-driven diagnosis of patients with rare genetic diseasesβ84Jul 1, 2025Updated last year
- Rosalution assists researchers study genetic variation 𧬠in patients π§πΎβπ€βπ§πΌ by helping select candidate animal models πππ πͺ± to β¦β10Sep 29, 2026Updated 2 weeks ago
- A Comprehensive Rare Disease Diagnostic Dataset with nearly 50,000 patients covering more than 4000 diseasesβ53Mar 13, 2026Updated 7 months ago
- An R package for summarizing and visualizing association analysis results of whole-genome/whole-exome sequencing (WGS/WES) studies generaβ¦β13Oct 16, 2024Updated last year
- An online database of variants functionally demonstrated to affect (or not affect) splicing.β14Sep 22, 2026Updated 3 weeks ago
- 1-Click AI Models by DigitalOcean Gradient β’ AdDeploy popular AI models on DigitalOcean Gradient GPU virtual machines with just a single click. Zero configuration with optimized deployments.
- Divine: Prioritizing Genes for Rare Mendelian Disease in Whole Exome Sequencing Dataβ13Apr 18, 2019Updated 7 years ago
- An information model for representing variant annotations.β28Oct 5, 2026Updated last week
- Tissue-specific variant annotationβ10Nov 19, 2018Updated 7 years ago
- Accessing AlphaMissense Data Resources in Rβ13Sep 7, 2026Updated last month
- A Heterogeneous Graph Transformer (HGT)-based model for protein function prediction using biological knowledge graphs and protein languagβ¦β19Jan 27, 2026Updated 8 months ago
- A Toolset for Chromosome X-Wide Association Studiesβ13May 1, 2018Updated 8 years ago
- β11May 14, 2025Updated last year
- A comprehensive platform for population-scale genomic analysesβ10Apr 20, 2026Updated 5 months ago
- β13Updated this week
- Managed Kubernetes at scale on DigitalOcean β’ AdDigitalOcean Kubernetes includes the control plane, bandwidth allowance, container registry, automatic updates, and more for free.
- UAB Research Computing Documentationβ24Updated this week
- A script to run HLA typing tools from next generation sequencing dataβ11Jan 4, 2023Updated 3 years ago
- Analaysis for the batch correction paperβ12Apr 26, 2025Updated last year
- A Mendelian approach to variant effect prediction built in kerasβ22Aug 22, 2026Updated last month
- Django backend to varappβ19Feb 9, 2017Updated 9 years ago
- Code to do data processing and create figures for "The geography of recent genetic ancestry across Europe", http://arxiv.org/abs/1207.381β¦β15May 26, 2014Updated 12 years ago
- Efficient Symptom Inquiring and Diagnosis via Adaptive Alignment of Reinforcement Learning and Classification [AI in Medicine Journal]β14May 20, 2022Updated 4 years ago
- β21Jul 28, 2025Updated last year
- Interpretable prioritization of splice variants in diagnostic next-generation sequencingβ19May 9, 2024Updated 2 years ago
- Open source password manager - Proton Pass β’ AdSecurely store, share, and autofill your credentials with Proton Pass, the end-to-end encrypted password manager trusted by millions.
- β10Jan 19, 2019Updated 7 years ago
- Code repository for MMUGL: Multi-modal Graph Learning over UMLS Knowledge Graphsβ11Dec 7, 2023Updated 2 years ago
- 'htslib' based 'Duckdb' Extenstion for High Throughput Sequencing File Formatsβ19Updated this week
- Cromwell/WDL wrapper for Pythonβ58Feb 13, 2026Updated 8 months ago
- β17Sep 14, 2023Updated 3 years ago
- Companion to "A genome-wide almanac of co-essential modules assigns function to uncharacterized genes" (https://doi.org/10.1101/827071)β27Jul 19, 2022Updated 4 years ago
- β29Sep 23, 2019Updated 7 years ago
- A curated list of biomedical knowledge graphs and of resources for their construction.β76Oct 17, 2024Updated last year
- β14Sep 26, 2024Updated 2 years ago
- 1-Click AI Models by DigitalOcean Gradient β’ AdDeploy popular AI models on DigitalOcean Gradient GPU virtual machines with just a single click. Zero configuration with optimized deployments.
- β12Dec 17, 2025Updated 9 months ago
- [SIGIR24] Pre-training with Bag-of-Word Prediction for Dense Passage Retrievalβ18Feb 29, 2024Updated 2 years ago
- Source codes and datasets for How well do Large Language Models perform in Arithmetic tasks?β57Apr 17, 2023Updated 3 years ago
- Software to process, statistically analyse and visualise deep mutational scanning dataβ14Aug 3, 2026Updated 2 months ago
- Taiga for Dataset managementβ12May 5, 2026Updated 5 months ago
- Tool to help visualize data after BLAST by generating pathways on KEGG using an input file of genes and their associated KEGG accession.β10Apr 29, 2022Updated 4 years ago
- Create Regional Association Plotsβ14May 27, 2026Updated 4 months ago