1The Novo Nordisk Foundation Center for Genomic Mechanisms of Disease, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA

2Center for Genomic Medicine, Massachusetts General Hospital, Harvard Medical School, Cambridge, MA 02142, USA

3Stanford Center for Inherited Cardiovascular Disease, Stanford University School of Medicine, Stanford, CA, USA 94305

4The Steve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children’s Hospital, Columbus, OH 43215, USA

5Department of Pediatrics, The Ohio State University College of Medicine, Columbus, OH 43210, USA

6Department of Biomedical Informatics, The Ohio State University, Columbus, OH 43210, USA

7The Jackson Laboratory, Bar Harbor, ME 04609, USA

8Wellcome Sanger Institute, Hinxton, Cambridge, UK

9Dept of Medical Genetics, Cambridge University Hospitals NHS Trust, Cambridge UK

10Department of Genome Sciences, University of Washington, Seattle, WA 98105, USA

11Department of Biology, University of Toronto at Mississauga, Mississauga, Ontario, Canada

12Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA

13Donnelly Centre, University of Toronto, Toronto, Ontario, Canada

14Department of Molecular Genetics, University of Toronto, Toronto, Ontario, Canada

15Department of Computer Science, University of Toronto, Toronto, Ontario, Canada

16Lunenfeld-Tanenbaum Research Institute, Sinai Health, Toronto, Ontario, Canada

17Institute for Bioengineering of Catalunya (IBEC), The Barcelona Institute of Science and Technology, Barcelona, Spain

18Vanderbilt University Medical Center, Nashville, TN 37232, USA

19Bioinformatics Division, WEHI, Parkville, Victoria, Australia

20Department of Medical Biology, University of Melbourne, Parkville, Victoria, Australia

These authors contributed equally to this work.

Authors’ contributions

MC, VNP, CJB, ANNB, FPR, DT, AMG, and AFR conceptualized the study. AHW, FPR, and AFR developed the methodology. AHW and KR developed software. AHW performed validation. MC, AHW, BB, AMG, and AFR performed formal analysis. AHW conducted investigations. VNP and DT provided resources. VNP and ANNB curated data. MC, AHW, JAA, BB, AMG, and AFR wrote the original draft.MC, VNP, AHW, CJB, HVF, LAM, ANNB, DT, BB, AMG, and AFR reviewed and edited the manuscript. LAM, BB, AMG, and AFR supervised the team. VNP and LAM performed project administration.

*

To whom correspondence should be addressed bbolognesi@ibecbarcelona.eu, andrew.m.glazer@vumc.org, alan.rubin@wehi.edu.au.