About the Authors

Sek Won Kong

Contributed equally to this work with: Sek Won Kong, Christin D. Collins

Affiliations Informatics Program at the Harvard–Massachusetts Institute of Technology Division of Health Sciences and Technology, Boston Children's Hospital, Boston, Massachusetts, United States of America, Department of Cardiology, Boston Children's Hospital, Boston, Massachusetts, United States of America, Department of Pediatrics, Harvard Medical School, Boston, Massachusetts, United States of America

Christin D. Collins

Contributed equally to this work with: Sek Won Kong, Christin D. Collins

Affiliations Division of Genetics, Program in Genomics, Boston Children's Hospital, Boston, Massachusetts, United States of America, Department of Pediatrics, Harvard Medical School, Boston, Massachusetts, United States of America

Yuko Shimizu-Motohashi

Affiliations Division of Genetics, Program in Genomics, Boston Children's Hospital, Boston, Massachusetts, United States of America, Department of Pediatrics, Harvard Medical School, Boston, Massachusetts, United States of America

Ingrid A. Holm

Affiliations Division of Genetics, Program in Genomics, Boston Children's Hospital, Boston, Massachusetts, United States of America, Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, Massachusetts, United States of America, Department of Pediatrics, Harvard Medical School, Boston, Massachusetts, United States of America, Autism Consortium, Boston, Massachusetts, United States of America

Malcolm G. Campbell

Affiliation Informatics Program at the Harvard–Massachusetts Institute of Technology Division of Health Sciences and Technology, Boston Children's Hospital, Boston, Massachusetts, United States of America

In-Hee Lee

Affiliation Informatics Program at the Harvard–Massachusetts Institute of Technology Division of Health Sciences and Technology, Boston Children's Hospital, Boston, Massachusetts, United States of America

Stephanie J. Brewster

Affiliations Division of Genetics, Program in Genomics, Boston Children's Hospital, Boston, Massachusetts, United States of America, Autism Consortium, Boston, Massachusetts, United States of America

Ellen Hanson

Affiliations Division of Genetics, Program in Genomics, Boston Children's Hospital, Boston, Massachusetts, United States of America, Division of Developmental Medicine, Boston Children's Hospital, Boston, Massachusetts, United States of America, Department of Psychiatry, Boston Children's Hospital, Boston, Massachusetts, United States of America

Heather K. Harris

Affiliations Division of Genetics, Program in Genomics, Boston Children's Hospital, Boston, Massachusetts, United States of America, Autism Consortium, Boston, Massachusetts, United States of America

Kathryn R. Lowe

Affiliations Division of Genetics, Program in Genomics, Boston Children's Hospital, Boston, Massachusetts, United States of America, Autism Consortium, Boston, Massachusetts, United States of America

Adrianna Saada

Affiliation Division of Developmental Medicine, Boston Children's Hospital, Boston, Massachusetts, United States of America

Andrea Mora

Affiliation Division of Developmental Medicine, Boston Children's Hospital, Boston, Massachusetts, United States of America

Kimberly Madison

Affiliation Division of Developmental Medicine, Boston Children's Hospital, Boston, Massachusetts, United States of America

Rachel Hundley

Affiliations Division of Developmental Medicine, Boston Children's Hospital, Boston, Massachusetts, United States of America, Department of Psychiatry, Boston Children's Hospital, Boston, Massachusetts, United States of America

Jessica Egan

Affiliation Division of Genetics, Program in Genomics, Boston Children's Hospital, Boston, Massachusetts, United States of America

Jillian McCarthy

Affiliation Division of Genetics, Program in Genomics, Boston Children's Hospital, Boston, Massachusetts, United States of America

Ally Eran

Affiliation Informatics Program at the Harvard–Massachusetts Institute of Technology Division of Health Sciences and Technology, Boston Children's Hospital, Boston, Massachusetts, United States of America

Michal Galdzicki

Affiliation Informatics Program at the Harvard–Massachusetts Institute of Technology Division of Health Sciences and Technology, Boston Children's Hospital, Boston, Massachusetts, United States of America

Leonard Rappaport

Affiliations Division of Developmental Medicine, Boston Children's Hospital, Boston, Massachusetts, United States of America, Department of Pediatrics, Harvard Medical School, Boston, Massachusetts, United States of America

Louis M. Kunkel

kunkel@enders.tch.harvard.edu (LMK); isaac_kohane@harvard.edu (ISK)

Affiliations Division of Genetics, Program in Genomics, Boston Children's Hospital, Boston, Massachusetts, United States of America, Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, Massachusetts, United States of America, Department of Pediatrics, Harvard Medical School, Boston, Massachusetts, United States of America, Howard Hughes Medical Institute, Harvard Medical School, Boston, Massachusetts, United States of America, Department of Genetics, Harvard Medical School, Boston, Massachusetts, United States of America

Isaac S. Kohane

kunkel@enders.tch.harvard.edu (LMK); isaac_kohane@harvard.edu (ISK)

Affiliations Informatics Program at the Harvard–Massachusetts Institute of Technology Division of Health Sciences and Technology, Boston Children's Hospital, Boston, Massachusetts, United States of America, Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, Massachusetts, United States of America, Department of Pediatrics, Harvard Medical School, Boston, Massachusetts, United States of America, Center for Biomedical Informatics, Harvard Medical School, Boston, Massachusetts, United States of America, Autism Consortium, Boston, Massachusetts, United States of America

Competing Interests

The authors have declared that no competing interests exist.

Author Contributions

Conceived and designed the experiments: LMK ISK. Performed the experiments: SWK CDC YS-M IAH SJB EH HKH KRL AS AM KM RH JE JM AE MG LR MGC I-HL. Analyzed the data: SWK. Wrote the paper: SWK ISK.