Using multi-scale genomics to associate poorly annotated genes with rare diseases

ConclusionsWe 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 athttps://ccanavati.shinyapps.io/EvORanker/.
Source: Genome Medicine - Category: Genetics & Stem Cells Source Type: research