Erosion of Conserved Binding Sites in Personal Genomes Points to Medical Histories.

ABSTRACT: Although many human diseases have a genetic component involving many loci, the majority of studies are statistically underpowered to isolate the many contributing variants, raising the question of the existence of alternate processes to identify disease mutations. To address this question, we collect ancestral transcription factor binding sites disrupted by an individual's variants and then look for their most significant congregation next to a group of functionally related genes. Strikingly, when the method is applied to five different full human genomes, the top enriched function for each is invariably reflective of their very different medical histories. For example, our method implicates "abnormal cardiac output" for a patient with a longstanding family history of heart disease, "decre

SUBMITTER: Guturu H 

PROVIDER: S-EPMC4742230 | biostudies-literature | 2016 Feb

REPOSITORIES: biostudies-literature