W Scott Watkins, E Javier Hernandez, Thomas A Miller, Nathan R Blue, Raquel Zimmerman, Eric R Griffiths, Erwin Frise, Daniel Bernstein, Marko T Boskovski, Martina Brueckner, Wendy K Chung, J William Gaynor, Bruce D Gelb, Elizabeth Goldmuntz, Peter J Gruber, Jane W Newburger, Amy E Roberts, Sarah U Morton, John E Mayer, Christine E Seidman, Jonathan G Seidman, Yufeng Shen, Michael Wagner, H Joseph Yost, Mark Yandell, Martin Tristani-Firouzi
While genome sequencing has transformed medicine by elucidating the genetic underpinnings of both rare and common complex disorders, its utility to predict clinical outcomes remains understudied. Here, we used artificial intelligence (AI) technologies to explore the predictive value of genome sequencing in forecasting clinical outcomes following surgery for congenital heart defects (CHD). We report results for a cohort of 2,253 CHD patients from the Pediatric Cardiac Genomics Consortium with a broad range of complex heart defects, pre- and post-operative clinical variables and exome sequencing...
May 5, 2024: medRxiv