Accepted for Publication: January 12, 2012.
Author Contributions: All authors had full access to all the data in the study and take responsibility for the integrity of the data and the accuracy of the data analysis. Study concept and design: Chen, Girirajan, Nickerson, and Raskind. Acquisition of data: Chen, Matsushita, Rieder, Girirajan, Antonacci, Lipe, Eichler, Nickerson, and Bird. Analysis and interpretation of data: Chen, Robertson, Rieder, Girirajan, Nickerson, and Raskind. Drafting of the manuscript: Robertson, Girirajan, Lipe, Nickerson, and Raskind. Critical revision of the manuscript for important intellectual content: Chen, Matsushita, Rieder, Girirajan, Antonacci, Eichler, Nickerson, Bird, and Raskind. Statistical analysis: Robertson and Girirajan. Obtained funding: Eichler, Nickerson, Bird, and Raskind. Administrative, technical, and material support: Chen, Matsushita, Rieder, Girirajan, Antonacci, Lipe, Nickerson, and Raskind. Study supervision: Rieder, Eichler, and Raskind.
Financial Disclosure: Drs Bird and Raskind receive licensing fees from Athena Diagnostics.
Funding/Support: This research was supported by resources from the Veterans Integrated Service Network 20 Mental Illness Research, Education, and Clinical Center, VA Puget Sound Health Care System (Drs Bird and Raskind), and by American Recovery and Reinvestment Act funds through National Human Genome Research Institute grant RC2HG005608 (Drs Nickerson and Raskind) and National Institute of Neurological Disorders and Stroke grant R01NS069719 (Dr Raskind), National Institutes of Health. Dr Eichler is an investigator for the Howard Hughes Medical Institute.
Role of the Sponsors: The sponsors had no role in the study design, data collection and analysis, decision to publish, or preparation of the manuscript.
Additional Contributions: We are grateful to the family for their participation in this study. John Wolff, BS, provided expert technical support. Guy Chan, PhD, and Ning Zheng, PhD, provided helpful information and advice about AC biochemistry. We thank and recognize the following ongoing studies that produced and provided exome variant calls for comparison: the National Heart, Lung, and Blood Institute (NHLBI) Lung Cohort Sequencing Project (HL 1029230), the NHLBI Women's Health Initiative Sequencing Project (HL 102924), and the Northwest Genomics Center (HL 102926). The University of Washington is a Huntington Disease (Huntington's Disease Society of America) Center of Excellence.