About the Authors

Melanie Lacaria

Affiliation Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, United States of America

Pradip Saha

Affiliations Diabetes and Endocrinology Research Center, Baylor College of Medicine, Houston, Texas, United States of America, Department of Medicine, Baylor College of Medicine, Houston, Texas, United States of America, Department of Molecular and Cellular Biology, Baylor College of Medicine, Houston, Texas, United States of America

Lorraine Potocki

Affiliations Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, United States of America, Texas Children's Hospital, Houston, Texas, United States of America

Weimin Bi

Affiliation Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, United States of America

Jiong Yan

Affiliation Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, United States of America

Santhosh Girirajan

Affiliation Department of Molecular and Human Genetics, Virginia Commonwealth University, Richmond, Virginia, United States of America

Brooke Burns

Affiliation Department of Pediatrics, Virginia Commonwealth University, Richmond, Virginia, United States of America

Sarah Elsea

Affiliations Department of Molecular and Human Genetics, Virginia Commonwealth University, Richmond, Virginia, United States of America, Department of Pediatrics, Virginia Commonwealth University, Richmond, Virginia, United States of America

Katherina Walz

Affiliation Department of Human Genetics, University of Miami, Miami, Florida, United States of America

Lawrence Chan

Affiliations Diabetes and Endocrinology Research Center, Baylor College of Medicine, Houston, Texas, United States of America, Department of Medicine, Baylor College of Medicine, Houston, Texas, United States of America, Department of Molecular and Cellular Biology, Baylor College of Medicine, Houston, Texas, United States of America

James R. Lupski

jlupski@bcm.edu

Affiliations Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, United States of America, Texas Children's Hospital, Houston, Texas, United States of America, Department of Pediatrics, Baylor College of Medicine, Houston, Texas, United States of America

Wenli Gu

Affiliation Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, United States of America

Competing Interests

JRL is a consultant for Athena Diagnostics, holds stock ownership in 23andMe and Ion Torrent Systems, and is a co-inventor on multiple United States and European patents for DNA diagnostics.

Author Contributions

Conceived and designed the experiments: JRL LC WG PS. Performed the experiments: WG ML PS SG BB. Analyzed the data: WG PS ML. Contributed reagents/materials/analysis tools: LP JRL. Wrote the paper: WG JRL ML PS LC. Participated in the intellectual discussion and interpretation of the data: WG JRL ML PS LC. Provided input: SE WB JY KW.