A next-generation episignature for Kabuki syndrome enables fine mapping of the impact of KMT2D variants to inform precision medicine

A next-generation KMT2D episignature, defined using the largest Kabuki syndrome type 1 cohort to date, can be used to map pathogenic variants using array or long-read platforms, to improve missense variant interpretation, and to demonstrate the diagnostic utility of optimized episignatures in rare disease.