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Whole genome sequencing in adolescent idiopathic scoliosis cohort implicates multiple biological pathways

10 Oct 2025

Abstract excerpt

Adolescent idiopathic scoliosis (AIS) is a complex genetic disorder. This study used whole-genome sequencing (WGS) to investigate the genetic basis of AIS in 119 patients from 103 families. Our WGS analysis identified known pathogenic or protein-truncating variants in 15 probands, and other strong or moderate candidate variants in 69 additional patients. We found both coding and non-coding mutations, including...

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PMID: 41073408
DOI: 10.1038/s41525-025-00520-5

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