About the Authors

Nori Matsunami

Contributed equally to this work with: Nori Matsunami, Dexter Hadley, Charles H. Hensel

Affiliation Department of Human Genetics, University of Utah, Salt Lake City, Utah, United States of America

Dexter Hadley

Contributed equally to this work with: Nori Matsunami, Dexter Hadley, Charles H. Hensel

Affiliation Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, United States of America

Charles H. Hensel

Contributed equally to this work with: Nori Matsunami, Dexter Hadley, Charles H. Hensel

Affiliation Lineagen, Inc., Salt Lake City, Utah, United States of America

G. Bryce Christensen

Affiliation Golden Helix, Inc., Bozeman, Montana, United States of America

Cecilia Kim

Affiliation Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, United States of America

Edward Frackelton

Affiliation Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, United States of America

Kelly Thomas

Affiliation Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, United States of America

Renata Pellegrino da Silva

Affiliation Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, United States of America

Jeff Stevens

Affiliation Department of Human Genetics, University of Utah, Salt Lake City, Utah, United States of America

Lisa Baird

Affiliation Department of Human Genetics, University of Utah, Salt Lake City, Utah, United States of America

Brith Otterud

Affiliation Department of Human Genetics, University of Utah, Salt Lake City, Utah, United States of America

Karen Ho

Affiliation Lineagen, Inc., Salt Lake City, Utah, United States of America

Tena Varvil

Affiliation Department of Human Genetics, University of Utah, Salt Lake City, Utah, United States of America

Tami Leppert

Affiliation Department of Human Genetics, University of Utah, Salt Lake City, Utah, United States of America

Christophe G. Lambert

Affiliation Golden Helix, Inc., Bozeman, Montana, United States of America

Mark Leppert

Affiliation Department of Human Genetics, University of Utah, Salt Lake City, Utah, United States of America

Hakon Hakonarson

hakonarson@email.chop.edu

Affiliations Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, United States of America, Department of Pediatrics, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania, United States of America

Competing Interests

Bryce Christensen and Christophe Lambert are paid employees of Golden Helix Inc., which derives commercial revenue from the SNP & Variation Suite software used for data analysis for this publication. Nori Matsunami, Charles Hensel and Mark Leppert have stock options in Lineagen, Inc. These affiliations do not alter the authors' adherence to all the PLOS ONE policies on sharing data and materials.

Author Contributions

Conceived and designed the experiments: NM DH CHH GBC CGL ML HH. Performed the experiments: CK EF KT RPdS JS LB BO TV. Analyzed the data: NM DH CHH GBC KH TL CGL ML HH. Contributed reagents/materials/analysis tools: DH GBC CGL HH. Wrote the paper: NM CHH ML.