Repository to explain the projects currently being developed at Foundation29.
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Updated
Aug 25, 2020
Repository to explain the projects currently being developed at Foundation29.
Code repository accompanying the paper by Shahin et al. (2021), Sci. Immunol.
Disease-causing variant recommendation system for Rare diseases
**A Work in Progress** An application to help those (people on TPN) who logs their intake and output everyday. A more robust way to access data, see trends and to make life a little easier for the ones whose lives are already complicated.
Analysis of rare disease patients with ATG7 mutations
App for people diagnosed with IIH (Idiopathic Intracanial Hypertension)
Code repository accompanying the paper by Shahin et al. (2021), Blood Adv
PLD-Progression Grouper - visualize and analyze the progression of Polycystic Liver Disease (PLD) through user-inputted clinical data
Resource page about Kawasaki Disease and any helpful information we find. The focus will be on South Africa but not limited just the country. We want to create awareness and provide information, in particular to parents.
PhD thesis written in Quarto.
Caroline Beck's lab pages
Addison's Disease presentation for Rare Disease Day 2023
Graphics for the article "Methods used in the development of Common Data Models for health data – a Scoping Review"
Script to quantify codon frequency after ABE-based editing
Framework for investigation of cell-type-specific regulation and expression in rare disease
A program to generate the summary statistics for the RD-Connect Sample Catalogue.
This repository is for our 2024 manuscript, Cell-type-specific alternative splicing in the cerebral cortex of a Schinzel-Giedion Syndrome patient variant mouse model
IdeRare Phenotype Analysis suite : Convert Indonesia SATUSEHAT terminology (SNOMED-CT, LOINC, ICD-10) to Rare Disease Terminology / Ontology (HPO, OMIM) and find the likelihood differential gene and disease explaining patient phenotype
Transfer learning for uncovering the biology underlying rare disease
Retinitis Pigmentosa gene interaction network website.
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