CIFASD Informatics Core Update June 1, 2016 Bill Barnett, PI Helen Yezerets, Lead Developer

Refresher: CIFASD Informatics Core Charter: A U24 Core that serves the entire CIFASD consortium The steward of CIFASD data The lead organization in the development of CIFASD data standards A service for the collection and centralization of CIFASD data A service for integrative studies of CIFASD data Team: Bill Barnett, Principal Investigator Helen Yezerets, Primary Developer Andy Arenson, Senior Developer Acknowledgements: (Valuable Feedback and Guidance) Dr. Mattson, Dr. Chambers, and Dr. Sowell Bill, I have identified the slides which we carried over from last year with a sub-title “Refresher”.

Aims Aim 1: Continued cyberinfrastructure support Aim 2: Collection of additional data sets Aim 3: Support of affiliated projects Novel Informatics Support for CIFASD Community

Aim 1 Aim 1.1: Provide data management and integration and lead the ongoing development of the CIFASD data dictionary, architectures for managing CIFASD data, and tools for data quality improvement and exploratory data analysis. Aim 1.2: Provide reporting support to the Administrative Core to track consortium progress.

Data Analysis and Reports Aim 1 May 2016 Updates Aim 1 2016 Updates Data Collection Data Query Data Analysis and Reports Data Management Data Dictionary Access Input Tool Infant Neuro 2nd Interview XML Export Aggregation of additional data from CIFASD clinical research projects into the CIFASD Central Repository (CR), improving the functionality of data collection standards and tools, and assisting CIFASD investigators with data integration needs for cross-study analyses. Data collection and Impact: Updated 3D Facial data dictionary based on Mike Suttie’s and Leah Wetherill’s request Updated discrepancies reports and provided automation empty records updates to various datasets to improve quality of the data uploaded to the CR. Dysmorphology Discrepancies Report 3D Facial Imaging Example: Upload records with/out Measurements [Dr. Foroud and Dr. Hammond groups]

Data Analysis and Reports Aim 1 May 2016 Updates Data Collection Data Query Data Analysis and Reports Data Management Cross Query Data query DAN Availability included DNA Availability

DNA Availability

Aim 1 May 2016 Updates Data Collection Data Query Data Analysis and Reports Data Management Data per gender, ethnicity, totals for individual site, and the combined totals per all sites in accordance with the NIH form [Dr. Mattson] Report of Race-Gender-Ethnicity Report :Developed a dynamic report for “Race-Gender-Ethnicity” that depicts data per gender, ethnicity , totals for individual site, and the combined totals per all sites in accordance with the NIH form. Included this report on the Central Repository 'Reports' page

Aim 1 May 2016 Updates Aim 1 2016 Updates Data Collection Data Query Data Analysis and Reports Data Management Data Cleansing Secure box.iu.edu storage Updates to Access input tools [Dr. Chambers’ Group] Data Management Delete erroneous records secure storage on the box.iu.edu: to streamline exchange of Access input tools between CIFASD ‘power’ users

Collection of additional data sets. Aim 2 Collection of additional data sets. Aim 2.1: Create additional software tools to incorporate new datasets for modalities that are already present in the Central Repository. Aim 2.2: Modify existing, or develop new, technology solutions and create additional software tools to incorporate datasets for entirely new modalities of data.

Aim 2 May 2016 Updates DNA Availability (483) 3D Facial Images New Data Sets in CR DNA Availability (483) 3D Facial Images with measurements (623) without measurements (263) Updated data upload, duplicate checking, and download functionality for 3D Facial Image with or without Measurements. Uploaded 623 new 3D facial measurements and 263 records without measurements to the CR. Updated existing variable names, cleaned up invalid variables in the 3D Facial Imaging data dictionary and central repository. Provided new DNA Availability dataset. Uploaded 483 records to CR

Support affiliated projects. Aim 3 Support affiliated projects. Aim 3.1: Create a permissions system so that data from affiliated studies may be securely shared. Aim 3.2: Work with affiliated studies to allow their data to be integrated into the central repository or otherwise compared with CIFASD project data, if affiliate study data are not structured or described in the same fashion as CIFASD studies. Novel Informatics Support for CIFASD Community

Phase I + II Phase I External Access Finalized identification of Phase II data by projects and sites in preparation for providing data access to the external researchers. Designed and implemented a section on the public cifasd website (cifasd.org) that provides external researchers with granular access to CIFASD Phase I and II data based on their signed agreement with CIFASD consortium. https://redcap.uits.iu.edu/redcap_v6.10.15/index.php?pid=6919

Future Efforts Improvements of Query Performance Legacy emphasis Near-term emphasis Long-term emphasis Data Management Improvements of Query Performance Training and Consultations Data Collection Data Analysis and Reports External Requests Completeness of Demographics Data Manual Improve Cross Query Publications Completed projects depicted in green. Submitted article to Elsevier: Journal of Biomedical Informatics (end of April) The Informatics Core will continue to work with the entire consortium to provide new data input, management, and output services, understand the ongoing needs for software tools and their development, provide better tools for data analysis, and ensure data quality. As needs change and the scope of data coming into the Central Repository expands, there will be a continued need for Informatics Core staff to assist researchers with data uploads and data cleansing in the central repository. There also will be new needs for tool modification as data upload needs, methodologies, or contributing sites change. As projects create new data types, such as genomic data, and affiliate projects create data integration requirements, the Informatics Core stands ready to assist in those endeavors in terms of data normalization, management, and reuse. The focus of the consortium continues to shift from the emphasis on collecting to analyzing and comparing data among affiliated projects. The Informatics Core will continue to be a facilitator for CIFASD clinical projects, support existing data submissions, and develop technical solutions for cross-study and/or cross-modality data analysis. In addition to modifying existing input and upload tools, we will shift focus to improving query and analytical capabilities for both hypothesis-driven analysis and quality assurance. The Informatics Core will also continue to work to support data quality improvements by fine-tuning existing reports and providing new analytics, summaries, and visualizations of CIFASD data. Finally, we will commit our resources for provisioning of CIFASD data for external requests, consultations and training. The Informatics Core will manage the new process for external investigators to gain access to CIFASD data and to oversee the data sharing process. The Informatics Core will also provision data to external investigators and provide long term archiving of derived data sets and other informatics services as per the CIFASD Data Use Agreement. Track 3D Images with DNA Phase II Data for External Researchers Data Analytics & Visualizations

Aim 3 May 2016 Novel Services Example of Initial Version of Decision Tree Survey Example of Stigma of Mental Illness Survey Interactive Visualization Platform Mobile app for Recruitment Consent and Data Entry Novel services potentially provided by Informatics Core

Created an initial version of decision tree survey https://redcap.uits.iu.edu/surveys/?s=RDCKK9D73P

Branching logic is implemented based on the flowchart. Fields dynamically appear according to the flowchart logic Created an initial version of decision tree survey https://redcap.uits.iu.edu/surveys/?s=RDCKK9D73P Branching logic is implemented based on the flowchart.

Stigma of Mental Illness Survey Example of Stigma of Mental Illness Survey The College Toolbox Project survey, developed using REDCap surveys by Andy Arenson, was used to create a separate, test version of the survey using the questions used in the original survey, that can be accessed via <https://redcap.uits.iu.edu/surveys/?s=XPR4Y8KCXK>. In order to access hidden branching questions  one would need to choose 'Yes' on the following question: “Have you ever known someone you are close to, including yourself, who has been treated badly or unfairly because of a physical, mental, or social characteristic?” Indiana University, is the first university to embark on this mission, organized a campaign to reduce the stigma associated with mental illness. The project is called “U Bring Change 2 Mind College Toolbox Project” (http://ubc2m.iu.edu/). Goal: to "develop, field-test and evaluate a range of approaches to changing attitudes about mental illness and mental health." The anti-stigma activist and acclaimed actress Glenn Close is invested in this mission and connected with IU Bloomington through Bernice Pescosolido (pescosol@indiana.edu, http://www.indiana.edu/~soc/bios/Bernice_Pescosolido.html), Distinguished Professor of Sociology in the College of Arts and Sciences and a leading researcher on the stigma associated with mental illness.   The testing of anti-stigma tactics will begin this summer on the freshmen students and will continue for four years. The tactics that are effective will go “into the toolbox” and be made available, free of charge, for other colleges and universities to adapt and use. The manager of the College Toolbox Project is Susan Barnett. http://inside.indiana.edu/editors-picks/health-wellness/2015-04-30-glenn-close.shtml#.VUJ1a7Ydit8.twitter

Interactive Visualization Platform Maternal Alcohol Use around Time of Conception Maternal Alcohol Use Two Weeks prior to Initial Survey Maternal Alcohol Use during Follow-up Survey DATASETS FILTERS Child’s Weight Gestational Age Socioeconomic Status Child’s Head Circumference For Dr. Chambers group: visualize maternal alcohol drinking during three point of analysis: -around the time of conception -two week prior the first interview -two weeks prior the second interview The datasets will be initially dynamically filtered through: Gestational age Hollingshead SES categories Child’s Head circumference at Birth Child’s Weight at Birth Child’s Height as Birth The resulting datasets will be presented as trajectories of alcohol consumption with potential identification of patterns Patterns of maternal alcohol use during pregnancy

Questions? Thank you! The CIFASD Informatics Core Helen Yezerets (yyezeret@iu.edu) Bill Barnett (barnettw@iu.edu) We anticipate that the upcoming renewal period will be signified by data provisioning not only for internal CIFASD users, but also for external users. We are excited about the possibility that incorporation of new data types, such as genomic data, will enable in better understanding FAS. Finally, we believe that cross data analytics and data visualization will play significant role in better understanding the relationship among data and in pursuing the scientific goals of CIFASD.