FRASER - Find RAre Splicing Events in RNA-seq
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Updated
May 27, 2024 - R
FRASER - Find RAre Splicing Events in RNA-seq
Accompanying analysis code for the FRASER manuscript
Detecting Aberrant Splicing Events from RNA-sequencing data
Multilayer Network analysis of medulloblastoma patients
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.
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"
Functions for working with the Human Phenotype Ontology data
Multi-Scale Target Explorer systematically identifies, prioritises, and visualises cell-type-specific gene therapy targets across the phenome.
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.
Code repository accompanying the paper by Shahin et al. (2021), Sci. Immunol.
Code repository accompanying the paper by Shahin et al. (2021), Blood Adv
Framework for investigation of cell-type-specific regulation and expression in rare disease
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