In 2018, CSSC migrated its applications and database to new hardware. Network and Desktop- During the past year, the core continued on supporting reliable, secure, and efficient information technology solutions. This includes acquisition, maintenance, and support for licensed software used by our DIR research community e.g., EndNote/Reference Manager, Bookends, GraphPad Prism, PyMol, network services (email, data backups, VPN, helix, PDAs, wireless configurations) and crossplatform desktop, server and application hosting in the Rock Spring and Bldg. 35 Data Centers. We host software licenses for computation, 3D imaging and sequencing e.g., Amira, ArrayStar and QSeq, Autodesk Maya, DNASTAR Lasergene Core Suite, MathWorks MATLAB, MolSoft and SeqMan NGen. Hosting these licenses permits users to leverage their research with additional tools available on Helix and Biowulf. We also assist users in identifying, researching and purchasing custom hardware configurations to match research instrument requirements. Data Recovery Services Core datarecovery tools were implemented for all media: hard drive, SSD, and flash etc., including RAID 0 and 5 recovery tools. Since 2005, the Core has recovered over five Terabytes of research data from failed drives and media. Clinical informatics- The Computer Support Services Core (CSSC) continued to support and develop applications related to clinical and translational medicine, including the Clinical Trials Database (CTDB) project. Such informatics tools allow researchers to design, collect, and report clinical observations related to natural history and interval-based studies. The total number of protocols and research projects supported by the CTDB team increased to approximately 560 for 15 NIH institutes, with an expansion of research questions to over 225,000. Our software development group completed one release that included features for electronic data upload and QA module performance improvements. Our database development and reporting team continued to migrate protocol data from various NIH institutes, while supplying reporting for protocols within CTDB. New datamart and reporting functionality added to the CTDB datamart allows users to combine and retrieve even more information. While already providing encryption-at-rest, the CTDB project interface to BTRIS was upgraded to ensure encryption-on-the-wire security policies were followed. We also supported the Clinical Trial Survey System (CTSS), an application for patient surveys, used for 163 active protocols. Biological visualization web services- - The CSSC team provided DIR laboratories with scientific communications and media services, including publication support, website support, audio/visual production, and print media. Those services were provided to: The NICHD Annual Report, the DIR Annual Fellows and Scientific Retreats, the NIH Research Festival, the NICHD Exchange lecture series, NICHD research labs and medical training programs including the Pediatric Endocrinology Training Program and Inter-Institute Adult Endocrinology training program. Services included recording audio and video of presenters, producing video abstracts to accompany publications, and offering professional photography. We supported the NICHD Office of Education by producing a monthly newsletter, The NICHD Connection, in collaboration with Intramural Fellows. We created print collateral for conferences including the NICHD Scientific Retreat, NICHD Fellows Retreat, and the MEN-1 symposium, as well as recruitment materials for NICHDs clinical training programs. We continued to facilitate the use of new technologies through demos and help coordinate several Virtual Reality demonstrations at the Intramural Research Festival, and co-leadership of the Virtual and Augmented Reality Interest Group. The CSSC continued to provide a platform for conducting scientific review by the Board of Scientific Counselors, administrative intranet support and business operations, in addition to public facing laboratory websites through a Confluence wiki known as Science NICHD ( The activities of the DIRweb services program included: laboratory websites, annual report, and internet applications. DIRweb includes a lab training web services for the NIH Enterprise Directory and Division of Occupational Health and Safety Training. The team continued to release enhancements to the Fellows Annual Progress Report; a unified means for tracking and mentoring intramural trainees along with easing the re-appointment process. Success with the Fellows APR has garnered interest from various other institutes and plans to implement a scalable and cost-effective inter-institute service are underway. This solution provided the Office of Education useful metrics regarding mentoring and training programs. An Exit Survey feature has also been also added for DIR Fellows; a short survey allowing DIR trainees a platform for providing feedback. A new Package Tracking module for the DIR Administrative Management Branch was developed, granting AMB staff real-time accuracy metrics for personnel and travel package compilation. Bioinformatics- During the past year, the bioinformatics team assisted the new Molecular Genetics Laboratory with data collection and storage for high-throughput sequencing. The scientific informatics group also develops research tools to assist investigators with genomic data management and analysis. A high-performance computing (HPC) cluster was used to assist with genomics computational requirements. The Genomics workbench Galaxy are installed and configured on the HPC to make use of the parallel processing capabilities. The CSSC maintains and adds features to a web application allowing researchers to search for and visualize RNA-seq data compiled by the Section on Neuroendocrinology . The CSSC also continues to provide and manage dozens of Terabytes of storage to support genomic research.

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U.S. National Inst/Child Hlth/Human Dev
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Trivellin, Giampaolo; Hernández-Ramírez, Laura C; Swan, Jeremy et al. (2018) An orphan G-protein-coupled receptor causes human gigantism and/or acromegaly: Molecular biology and clinical correlations. Best Pract Res Clin Endocrinol Metab 32:125-140
Hodes, Aaron; Lodish, Maya B; Tirosh, Amit et al. (2017) Hair cortisol in the evaluation of Cushing syndrome. Endocrine 56:164-174
Huser, Vojtech; Sastry, Chandan; Breymaier, Matthew et al. (2015) Standardizing data exchange for clinical research protocols and case report forms: An assessment of the suitability of the Clinical Data Interchange Standards Consortium (CDISC) Operational Data Model (ODM). J Biomed Inform 57:88-99
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