Nat GenetJClub
Mechanisms underlying disease-causing variants in promoters and enhancers.
Nature Genetics · · Review
Long, Wu + more
Abstract ↗AI summary
The abstract is read at the publisher; the summary is JClub's.
Variants in noncoding cis-regulatory elements are linked to human monogenic disorders, revealing mechanisms like loss or gain of function.
- Why it matters: Understanding these noncoding variants is crucial because they can illuminate the functions of the noncoding genome and improve disease diagnosis, yet few concrete examples exist.
- What they did: The authors review small genetic alterations in promoters, enhancers, and silencers, and discuss the challenges in determining their pathogenicity, emphasizing the need for experimental and machine-learning approaches.
- The result: Advancing this area may enhance the identification of disease-causing noncoding variants and deepen insights into gene regulation mechanisms in human genetics.
The findingWhy it mattersWhat they didThe result