Using multi-scale genomics to associate poorly annotated genes with rare diseases.
Christina CanavatiDana Sherill-RofeLara KamalIdit BlochFouad ZahdehElad SharonBatel TerespolskyIslam Abu AllanGrace RabieMariana KawasHanin KassemKaren B AvrahamPaul RenbaumEphrat Levy-LahadMoien KanaanYuval TabachPublished in: Genome medicine (2024)
We highlight clade-based phylogenetic profiling as a powerful systematic approach for prioritizing potential disease genes. Our study showcases the efficacy of EvORanker in associating poorly annotated genes to disease phenotypes observed in patients. The EvORanker server is freely available at https://ccanavati.shinyapps.io/EvORanker/ .
Keyphrases
- genome wide
- end stage renal disease
- bioinformatics analysis
- genome wide identification
- single cell
- ejection fraction
- chronic kidney disease
- newly diagnosed
- prognostic factors
- peritoneal dialysis
- dna methylation
- gene expression
- patient reported outcomes
- climate change
- transcription factor
- human health
- patient reported