S. Ruipérez-Campillo

AI foundation model for pathogenic gene variant prediction in dilated cardiomyopathy

Dilated cardiomyopathy (DCM) is a common heritable cardiomyopathy with substantial clinical and genetic heterogeneity (≈1 in 200). Determining whether a patient carries a likely pathogenic/pathogenic (LP/P) variant is clinically important since genotype status is associated with differences in disease course and...