neurogenomics / RareDiseasePrioritisation

Prioritise cell-type-specific gene targets from the Rare Disease Celltyping project.
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aav celltypes clinical-research genomics rare-disease scrna-seq single-cell-genomics

README

Authors:

Momoko Otani, Brian M. Schilder, Nathan G. Skene

README updated: Nov-16-2023

About

Prioritise cell-type-specific gene targets from the Rare Disease Celltyping project.

Thesis project by Momoko Otani, supervised by Nathan Skene and Brian Schilder.

Rmarkdown reports

Prioritise targets

Reduced network

Extended network

HPO annotations

Neurodegeneration

dementia/neurodegeneration vs. diabetes/obesity network

Cardiovascular

Default network

Hierarchical network

Symptoms

Differential outcomes

GPT annotations

Orphanet prevalence data