Peer-Reviewed Publication
Nat Commun2025;16(1):6365.July 10, 2025Journal Article
Genome sequencing is critical for forecasting outcomes following congenital cardiac surgery.
W Scott Watkins1, Edgar J Hernandez2, Thomas A Miller3, Nathan R Blue4, Raquel Mae Zimmerman2, Eric R Griffiths5, Erwin Frise6, Daniel Bernstein7, Marko T Boskovski8, Martina Brueckner9,10, Wendy K Chung11, J William Gaynor12, Bruce D Gelb13, Elizabeth Goldmuntz14, Peter J Gruber15, Jane W Newburger16, Amy E Roberts11,16, Sarah U Morton17, John E Mayer18, Christine E Seidman19,20, Jonathan G Seidman19, Yufeng Shen21, Michael Wagner22, H Joseph Yost23, Mark Yandell24, Martin Tristani-Firouzi25
1Department of Human Genetics, University of Utah, Salt Lake City, UT, 84112, USA.
2Department of Biomedical Informatics, University of Utah, Salt Lake City, UT, 84108, USA.
3Department of Pediatrics, Maine Medical Center, Portland, ME, USA.
4Department of Obstetrics and Gynecology, University of Utah, Salt Lake City, UT, 84112, USA.
5Pediatric Cardiothoracic Surgery, University of Utah, Salt Lake City, UT, USA.
6Fabric Genomics Inc, Oakland, CA, 94612, USA.
7Department of Pediatrics, Stanford University School of Medicine, Stanford, CA, 94305, USA.
8Department of Surgery, University of California, San Francisco, CA, 94143, USA.
9Department of Pediatrics, Yale University School of Medicine, New Haven, CT, 06510, USA.
10Department of Genetics, Yale University School of Medicine, New Haven, CT, 06510, USA.
11Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA, 02115, USA.
12Division of Cardiothoracic Surgery, Department of Surgery, Children's Hospital of Philadelphia, and the Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.
13Mindich Child Health and Development Institute and Departments of Pediatrics and Genetics & Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, 10029, USA.
14Division of Cardiology, Children's Hospital of Philadelphia, Department of Pediatrics, The Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.
15Department of Surgery, Yale University, New Haven, CT, USA.
16Department of Cardiology, Boston Children's Hospital, and Department of Pediatrics, Harvard Medical School, Boston, MA, 02115, USA.
17Division of Newborn Medicine, Department of Medicine, Boston Children's Hospital, Boston, MA, USA.
18Department of Cardiovascular Surgery, Boston Children's Hospital, Harvard Medical School, Boston, MA, 02115, USA.
19Departments of Genetics and Medicine, Harvard Medical School, Boston, MA, 02115, USA.
20Cardiovascular Division, Massachusetts General Brigham, Boston, MA, 02115, USA.
21Departments of Systems Biology and Biomedical Informatics, Columbia University, New York, NY, 10032, USA.
22Division of Biomedical Informatics, Department of Pediatrics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA.
23Molecular Medicine Program, University of Utah, Salt Lake City, UT, 84112, USA.
24Department of Human Genetics, University of Utah, Salt Lake City, UT, 84112, USA. myandell@genetics.utah.edu.
25Nora Eccles Harrison Cardiovascular Research and Training Institute, and Division of Pediatric Cardiology, Salt Lake City, UT, 84108, USA. Martin.Tristani@utah.edu.
Abstract
While exome and whole genome sequencing have transformed medicine by elucidating the genetic underpinnings of both rare and common complex disorders, its utility to predict clinical outcomes remains understudied. Here, we use artificial intelligence (AI) technologies to explore the predictive value of whole exome sequencing in forecasting clinical outcomes following surgery for congenital heart de…
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