Study concept and design: Dewey, Grove, Bernstein, Ormond, Ioannidis, Altman, Snyder, Ashley, Quertermous.
Acquisition of data: Dewey, Grove, Bernstein, Chaib, Kingham, Ford, Boxer, Yeung, Assimes, Snyder, Ashley, Quertermous.
Analysis and interpretation of data: Dewey, Grove, Pan, Goldstein, Merker, Goldfeder, Enns, David, Pakdaman, Ormond, Caleshu, Klein, Whirl-Carrillo, Sakamoto, Wheeler, Butte, Boxer, Ioannidis, Assimes, Snyder, Ashley, Quertermous.
Drafting of the manuscript: Dewey, Klein, Butte, Ford, Ashley.
Critical revision of the manuscript for important intellectual content: Dewey, Grove, Pan, Goldstein, Bernstein, Chaib, Merker, Goldfeder, Enns, David, Pakdaman, Ormond, Caleshu, Kingham, Klein, Whirl-Carrillo, Sakamoto, Wheeler, Ford, Boxer, Ioannidis, Yeung, Altman, Assimes, Snyder, Ashley, Quertermous.
Statistical analysis: Dewey, Pan, Goldstein, Ioannidis, Ashley.
Obtained funding: Snyder, Ashley, Quertermous.
Administrative, technical, and material support: Grove, Chaib, Merker, Caleshu, Klein, Ford, Boxer, Snyder, Quertermous.
Study supervision: Bernstein, Butte, Ford, Yeung, Altman, Assimes, Snyder, Ashley, Quertermous.
Conflict of Interest Disclosures: All authors have completed and submitted the ICMJE Form for Disclosure of Potential Conflicts of Interest. Dr Dewey reported that he is a stockholder and member of the scientific advisory board of Personalis Inc, a privately held genome interpretation company, and receives royalties for patented technology related to genome sequencing. Ms Grove reported that she has received speaker’s fees from Illumina Inc. Dr Klein reported that that she is a member of the scientific advisory board for Coriell Inc. Mss Caleshu and Ormond and Dr Wheeler reported that they receive royalties for patented technology related to genome sequencing. Drs Butte, Altman, and Snyder and Mr Ashley are founders, stockholders, and members of the scientific advisory board of Personalis Inc and receive royalties for patents related to genome sequencing. Dr Butte reported that he is a stockholder and member of the scientific advisory board of NuMedii Inc; consultant to Lilly, Regeneron, Johnson & Johnson, Roche, Geisinger, Verinata, Pfizer, and Samsung; has received speaker’s fees from Pfizer, Lilly, Siemens, Bristol-Myers Squibb, and Genentech; and holds stock in Carmenta, Eceos, Assay Depot, and Genstruct/Selva. Dr Snyder reported that he is a member of the scientific advisory board and stockholder of Genapsys Inc. Dr Quertermous reported that he is a member of the scientific advisory board of Aviir Inc. No other disclosures were reported.
Funding/Support: Supported in part by grants NHLBI T32 HL094274-01A2 (Dr Dewey), NHGRI P50 HG003389-05 (Ms Ormond), NIGMS R24 GM61374 (Drs Klein, Whirl-Carrillo, and Altman), NIH R01 GM079719 9 (Dr Butte), NHGRI U01 HG004267-03 (Dr Snyder), and Director’s New Innovator Award DP2 OD004613, RO1 HL113006, UO1 HG007436, XO1 HL115206, and HL094274 from the National Institutes of Health and by a grant from the Breetwor Family Foundation (Dr Ashley) and a grant from the LeDucq Foundation (Dr Quertermous).
Role of the Sponsor: The sponsors had no role in the design and conduct of the study; collection, management, analysis, and interpretation of the data; preparation, review, or approval of the manuscript; and decision to submit the manuscript for publication.
Additional Contributions: We thank the study participants for their involvement. We also thank Amin Zia, PhD, from the Stanford University Department of Genetics for commentary regarding structural variant identification and James R. Priest, MD, from the Stanford University Division of Pediatric Cardiology for helpful commentary on the manuscript. Neither investigator was compensated for their contribution.
Correction: This article was corrected March 11, 2014, to include an institutional affiliation for one of the authors.