Resource could boost genomics-driven precision medicine

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By analyzing genomic data from more than 30,000 people, an international team has revealed thousands of new regulatory regions that control disease-linked genes, a resource that is now available to researchers worldwide, according to new research published in the journal Nature Genetics.

To study how human genetic variation affects our risk of disease, researchers often carry out genome-wide association studies, which scan the genomes of patients and look for genetic variants more commonly associated with a specific condition.

Interpreting these results is not straight forward, researchers said. Instead of directly driving disease, many genetic variants instead regulate the activity of genes, influencing how much of a protein is produced. By pinpointing these regulatory regions, known as expression quantitative trait loci (eQTLs), researchers are able to better understand which genes directly contribute to disease risk and which could be targeted with precision treatments.

In this study, the researchers used specialized machine learning algorithms to analyze genomic data from the blood samples of 31,684 individuals. Out of the millions of genes they investigated, the researchers found not only that 88 percent had a cis-eQTL effect, but that 32 percent of genes also had a trans-eQTL effect further away in the genome, more than half of which they could assign to a biological impact, such as cardiovascular and immune diseases.

The findings are a significant step forward for genomics-driven precision medicine and could help identify markers that reveal which patients will benefit most from which treatment, the researchers said.