Calculating the relative strength of the TSS hotspot for all disease gene sets listed in the Human Phenotype Ontology 69 , we found highly significant associations ( p adj < 10 −50 ) with over 20 neoplasms and carcinomas (mean Jaccard index JI=0.22), decreased mitochondrial activity (two phenotypes; JI=0.52), seven neurological phenotypes (JI=0.18) and defective limb development (three phenotypes; JI=0.11), Fig. 5 c.
← all excerpts
Transcription start sites experience a high influx of heritable variants fueled by early development.
1
—
—