The analysis of genomic data of more than 30,000 people from an international team has revealed thousands of new regulatory areas in the body that control disease-associated genes. This finding is a new resource that is available to researchers worldwide.
The finding is a significant step toward genomics-based precision medicine and could help detect markers to reveal which patients to most benefit most from which type of treatment.
Meanwhile, the study provides an entirely new view for genetic regulation. It does so by uncovering an in-depth picture to understand how genes and diseases are linked. Importantly, this is the most detailed analysis provided so far to understand how genetic variation impacts gene expression.
The discovery serves to be an entirely new perspective on the genes of interest for researchers, and will help prioritize genes that could be more relevant for treatment purpose. This could also lead to understand improved markers for tracking progression of disease and the efficacy of medicines.
In fact, to understand the role of human genetic variation on the risk of disease, this compels researchers to undertake genome-centric studies. This involves scanning the genomes of patients and look for genetic variants that are commonly associated with a specific condition.
However, the interpretation of results in not straightforward. It influences how much protein is produced instead of revealing clearly how genetic variants regulate activity of genes. The pinpoint of these regulatory regions, this enables researchers to better understand the genes that directly contribute toward risk of disease and the ones that could be targeted with precision treatments.
Elaborately for the study, researchers employed specialized machine learning algorithms to comprehend genomic data obtained from the blood samples of 31,684 individuals.