Massively parallel characterization of adolescent idiopathic scoliosis risk variants

Abstract excerpt

ABSTRACT Adolescent idiopathic scoliosis (AIS) is a common pediatric musculoskeletal disorder characterized by lateral spinal curvature, often leading to chronic pain and deformity. While a significant genetic component to AIS is recognized, the functional impact of most associated genetic variants, particularly those in non-coding regions, remains largely unknown. Using massively parallel reporter assays, we...

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