Molecular pathology selected abstracts
November 2024—Many people with an intellectual disability do not receive a molecular diagnosis following genetic testing. While 1,427 genes have been confidently identified as etiological for an intellectual disability (ID), all but nine of them are protein coding. To identify noncoding etiologies of ID, the authors conducted a genetic association analysis using whole genome sequencing data on 77,539 participants in the 100,000 Genomes Project. The study included 29,741 probands and 4,782 affected relatives assigned by expert clinicians to one or more of 220 specific disease classes encompassing a wide range of pathologies.