Massively parallel sequencing (MPS) technologies generate billions of sequence reads that must be mapped to complex genomes and interpreted. These technologies provide an unprecedented opportunity to develop diagnostic tools and treatments for individuals with developmental disorders. However, scientists cannot make full use of these technologies without a significant investment in computational capacity and bioinformatics expertise. Individual scientists typically do not have the resources to justify full-time support of personnel with bioinformatics expertise. Similarly, IDD research often involves small samples, with intensive assessment in multiple domains such as behavior, genetics and neuroimaging, along with longitudinal analysis taking account of developmental phenomena. These complex studies invariably require complex biostatistics methods for data analysis and careful attention to study design to ensure optimal statistical power. By utilizing overlapping computational resources and personnel to process complex biomedical data, this core is able to offer cost-effective services in biostatistics and bioinformatics. The Bioinformatics and Biostatistics Core has the following specific objectives: 1. To provide broad biostatistics support to IDDRC Investigators studying behavior, genetics, arid basic and clinical neuroscience. The BBC offers IDDRC investigators access to biostatistics experts that can help analyze data from preclinical, imaging and other clinical neuroscience data (e.g., EEG), genetics, and behavioral studies. The BBC will provide biostatistics support for pilot studies, consultation on study design and analysis, integrated analysis of multidisciplinary data, and assistance with accessing and coordinating additional statistical resources from other UNC services. 2. To provide comprehensive bioinformatics support to IDDRC Investigators. The research questions posed by IDDRC projects increasingly rely on 'omics'(e.g., including genomic, proteomics, epigenomics) or other data sources, requiring substantial biostatistics and bioinformatics expertise. The BBC offers state-of-the- art bioinformatics services and computational resources that are critically important to a large and growing number of IDDRC investigators. 3. To provide informal and formal training in biostatistics and bioinformatics. The Core will regularly provide informal teaching and training through consultation around design and analysis. BBC staff also contributes to the rich educational and training environment through the provision of a variety of existing seminars, classes, and demonstrations for trainees and investigators within the IDDRC.

National Institute of Health (NIH)
Eunice Kennedy Shriver National Institute of Child Health & Human Development (NICHD)
Specialized Center--Cooperative Agreements (U54)
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Special Emphasis Panel (ZHD1-DSR-H)
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University of North Carolina Chapel Hill
Chapel Hill
United States
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Allard, Denise E; Wang, Yan; Li, Jian Joel et al. (2018) Schwann cell-derived periostin promotes autoimmune peripheral polyneuropathy via macrophage recruitment. J Clin Invest 128:4727-4741
Jha, Shaili C; Xia, Kai; Schmitt, James Eric et al. (2018) Genetic influences on neonatal cortical thickness and surface area. Hum Brain Mapp 39:4998-5013
Greene, R K; Spanos, M; Alderman, C et al. (2018) The effects of intranasal oxytocin on reward circuitry responses in children with autism spectrum disorder. J Neurodev Disord 10:12
Thaxton, Courtney; Kloth, Alexander D; Clark, Ellen P et al. (2018) Common Pathophysiology in Multiple Mouse Models of Pitt-Hopkins Syndrome. J Neurosci 38:918-936
Tuttle, Alexander H; Molinaro, Mark J; Jethwa, Jasmine F et al. (2018) A deep neural network to assess spontaneous pain from mouse facial expressions. Mol Pain 14:1744806918763658
Mostapha, Mahmoud; Shen, Mark D; Kim, SunHyung et al. (2018) A Novel Framework for the Local Extraction of Extra-Axial Cerebrospinal Fluid from MR Brain Images. Proc SPIE Int Soc Opt Eng 10574:
Ngattai Lam, Prince D; Belhomme, Gaetan; Ferrall, Jessica et al. (2018) TRAFIC: Fiber Tract Classification Using Deep Learning. Proc SPIE Int Soc Opt Eng 10574:
Qiao, Chunping; Dai, Yi; Nikolova, Viktoriya D et al. (2018) Amelioration of Muscle and Nerve Pathology in LAMA2 Muscular Dystrophy by AAV9-Mini-Agrin. Mol Ther Methods Clin Dev 9:47-56
Lyu, Ilwoo; Kim, Sun Hyung; Girault, Jessica B et al. (2018) A cortical shape-adaptive approach to local gyrification index. Med Image Anal 48:244-258
Song, Liujiang; Llanga, Telmo; Conatser, Laura M et al. (2018) Serotype survey of AAV gene delivery via subconjunctival injection in mice. Gene Ther 25:402-414

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