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.
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
Multilayer Network analysis of medulloblastoma patients
RDKG-115: Assisting drug repurposing and discovery for rare diseases by trimodal knowledge graph embedding
Code repository accompanying the paper by Shahin et al. (2021), Sci. Immunol.
Disease-causing variant recommendation system for Rare diseases
VizCNV is an interactive tool designed to analyze and visualize CNVs from short read WGS data in rare disease research. Built on R Studio Shiny, it streamlines the identification of complex genomic rearrangements and facilitates advancements in understanding and diagnosing rare genetic conditions.
A collection of scripts for filtering annotated variant call format files
PhD thesis written in Quarto.
This repository contains different scripts to automate and visualize analysis performed for the "Integration of proteomics with genomics and transcriptomics increases the diagnosis rate of Mendelian disorders"
App for people diagnosed with IIH (Idiopathic Intracanial Hypertension)
Code repository accompanying the paper by Shahin et al. (2021), Blood Adv
Code, data and results associated with the "Rare diseases cell-typing" project.
**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
Prioritise cell-type-specific gene targets from the Rare Disease Celltyping project.
Statistical models for finding de novo recurrence and compound heterozygosity across rare disease patient cohorts
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.
Caroline Beck's lab pages
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