About the Authors

Stephen C. J. Parker

Affiliation National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, United States of America

Jared Gartner

Affiliation National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, United States of America

Isabel Cardenas-Navia

Affiliation National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, United States of America

Xiaomu Wei

Affiliation National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, United States of America

Hatice Ozel Abaan

Affiliation National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, United States of America

Subramanian S. Ajay

Affiliation National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, United States of America

Nancy F. Hansen

Affiliation National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, United States of America

Lingyun Song

Affiliation Institute for Genome Sciences and Policy, Duke University, Durham, North Carolina, United States of America

Umesh K. Bhanot

Affiliation Department of Pathology, Memorial Sloan-Kettering Cancer Center, New York, New York, United States of America

J. Keith Killian

Affiliation National Cancer Institute, National Institutes of Health, Bethesda, Maryland, United States of America

Yevgeniy Gindin

Affiliations National Cancer Institute, National Institutes of Health, Bethesda, Maryland, United States of America, Graduate Program in Bioinformatics, Boston University, Boston, Massachusetts, United States of America

Robert L. Walker

Affiliation National Cancer Institute, National Institutes of Health, Bethesda, Maryland, United States of America

Paul S. Meltzer

Affiliation National Cancer Institute, National Institutes of Health, Bethesda, Maryland, United States of America

James C. Mullikin

Affiliation National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, United States of America

Terrence S. Furey

Affiliation Department of Genetics, Department of Biology, Lineberger Comprehensive Cancer Center, and Carolina Center for Genome Sciences, The University of North Carolina at Chapel Hill, Chapel Hill, North Carolina, United States of America

Gregory E. Crawford

Affiliation Institute for Genome Sciences and Policy, Duke University, Durham, North Carolina, United States of America

Steven A. Rosenberg

Affiliation National Cancer Institute, National Institutes of Health, Bethesda, Maryland, United States of America

Yardena Samuels

samuelsy@mail.nih.gov (YS); emargulies@illumina.com (EHM)

Affiliation National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, United States of America

Elliott H. Margulies

samuelsy@mail.nih.gov (YS); emargulies@illumina.com (EHM)

Current address: Illumina Cambridge, Chesterford Research Park, Saffron Walden, United Kingdom

Affiliation National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, United States of America

Competing Interests

The authors have read the journal's policy and have the following conflicts: EHM is an employee of Illumina Inc.; however, this work was performed in entirety prior to taking this new position.

Author Contributions

Conceived and designed the experiments: SCJP GEC YS EHM. Wrote the paper: SCJP YS EHM. Performed computational experiments on genomic variants: SCJP SSA NFH JCM EHM. Performed wet-lab experiments on genomic variants: ICN XW HOA UKB SAR JG YS. Generated and processed DNaseI hypersensitivity data: LS TSF GEC. Generated and processed aCGH results: JKK YG RLW PSM.