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

Abstract excerpt

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...

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