Published Online: October 18, 2014. doi:10.1001/jama.2014.14601.
Study concept and design: Yang, Xia, Boerwinkle, Beaudet, Lupski, Plon, Gibbs, Eng.
Acquisition, analysis, or interpretation of data: All authors.
Drafting of the manuscript: Yang, Xia, Niu, Liu, Lupski, Plon, Eng.
Critical revision of the manuscript for important intellectual content: Yang, Muzny, Ward, Braxton, Wang, Buhay, Veeraraghavan, Hawes, Chiang, Leduc, Beuten, Zhang, He, Scull, Willis, Landsverk, Craigen, Bekheirnia, Stray-Pedersen, Wen, Alcaraz, Cui, Walkiewicz, Reid, Bainbridge, Patel, Boerwinkle, Beaudet, Lupski, Plon, Gibbs, Eng.
Statistical analysis: Yang, Xia, Niu, Buhay, Leduc, Beuten, Bainbridge, Boerwinkle.
Obtained funding: Lupski, Plon, Gibbs.
Administrative, technical, or material support: Yang, Muzny, Xia, Ding, Ward, Braxton, Wang, Veeraraghavan, Hawes, Chiang, Leduc, Craigen, Stray-Pedersen, Wen, Reid, Patel, Beaudet, Gibbs, Eng.
Study supervision: Yang, Muzny, Boerwinkle, Beaudet, Lupski, Plon, Gibbs, Eng.
Conflict of Interest Disclosures: The authors have completed and submitted the ICMJE Form for Disclosure of Potential Conflicts of Interest. The Department of Molecular and Human Genetics at Baylor College of Medicine derives revenue from the clinical exome sequencing offered in the Medical Genetics Laboratory and Whole Genome Laboratory and the authors who are faculty members are indicated in the affiliation section. Dr Willis reported being currently employed by LabCorp, which performs commercial genetic testing. Dr Reid reported that being currently employed at Regeneron and owning stock in that company. Dr Bainbridge reported being the CEO of Codified Genomics. Dr Lupski reported owning stock in 23andMe and Ion Torrent Systems; and being a co-inventor on multiple European and US patents related to molecular diagnostics for inherited neuropathies, eye diseases, and bacterial genomic fingerprinting. No other disclosures were reported.
Funding/Support: This work was funded in part by grants U54 HG003273 (awarded to Dr Gibbs), U01 HG006485 (Dr Plon), and U54 HG006542 (Dr Lupski) from the National Human Genome Research Institute and grant R01 NS058529 (awarded to Dr Lupski) from the National Institute of Neurological Disorders and Stroke.
Role of the Funder/Sponsor: The National Human Genome Research Institute and the National Institute of Neurological Disorders and Stroke 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 all patients and referring physicians who submitted samples for testing. The following persons (all are full-time employees of Baylor College of Medicine, Houston, Texas) contributed to technical and bioinformatics development and support: Paul Lurix, PhD, Irene Miloslavskaya, BS, Wen Liu, BS, Jingjing Ma, PhD, Sarah Matakis, BS, Nehad Saada, MS, Jignesh Chandarana, MS, Lhia Krista Dolores-Freiberg, MS, Chunjing Qu, PhD, HarshaVardhan Doddapaneni, PhD, Jianhong Hu, PhD, Huyen Dinh, BS, Yi Han, PhD, Viktoriya Korchina, BS, Robert Glenn, PhD; manuscript submission and reference list: Cindy Pleckham, BS; and administrative program support: Jeffrey Mize, BS, Michelle Rives, BS, and Sean Kim, MBA. No additional compensation was received for these contributions.