About the Authors

Curt Scharfe

curts@stanford.edu

Affiliation Stanford Genome Technology Center, Stanford University, Palo Alto, California, United States of America

Henry Horng-Shing Lu

Affiliation Institute of Statistics, National Chiao Tung University, Hsinchu, Taiwan

Jutta K. Neuenburg

Affiliation BioMarin Pharmaceutical, Novato, California, United States of America

Edward A. Allen

Affiliation Stanford Genome Technology Center, Stanford University, Palo Alto, California, United States of America

Guan-Cheng Li

Affiliation Department of Operations Research, University of California Berkeley, Berkeley, California, United States of America

Thomas Klopstock

Affiliation Friedrich-Baur-Institute, Department of Neurology, Ludwig Maximilians University, Munich, Germany

Tina M. Cowan

Affiliation Departments of Pathology and Pediatrics, Stanford University, Stanford, California, United States of America

Gregory M. Enns

Affiliation Department of Pediatrics, Medical Genetics Division, Stanford University, Stanford, California, United States of America

Ronald W. Davis

Affiliation Stanford Genome Technology Center, Stanford University, Palo Alto, California, United States of America

Competing Interests

The authors have declared that no competing interests exist.

Author Contributions

Conceived and designed the experiments: CS. Analyzed the data: CS HHSL GCL. Contributed reagents/materials/analysis tools: CS HHSL JKN EAA TK TMC GME RWD. Wrote the paper: CS. Collected and annotated phenotype data: CS TMC GME. Established the phenome ontology: CS JKN TK TMC GME. Created the online knowledgebase: CS EAA.