Genomics & Data Integration Core

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(CORE D- GDIC: GENOMICS AND DATA INTEGRATION CORE) PROJECT SUMMARY Description: The Genomics and Data Integration Core (GDIC) provides comprehensive and expert analytic guidance, sequencing, and informatics tools for IDDRC users who require support in genomic project planning, data generation, analyses, interpretation, and informatics integration with complex data types and sources to directly facilitate end-user research analyses and discovery. The core has three components: [1] The Genomic Sequencing Service supports generation and expert informatician-based analysis of nucleotide sequences obtained from either nuclear or mitochondrial DNA or RNA, including those taken from single cells and IPSCs. This service is directed by Dr. Hakon Hakonarson, an internationally recognized pioneer in the use of genome- wide mapping to understand the causes of IDD. [2] The Genomic Data Bioinformatics Resources & Variant Analysis Education Service provides users with access to MITOMAP/MITOMASTER and MSeqDR, Web toolkits in order to enable self-analysis of genetic variants in both nuclear and mitochondrial genomes. These toolkits, developed by Drs. Douglas Wallace and Marni Falk, enjoy broad recognition as essential instruments for understanding the genetics of mitochondrial disease. This service leverages CHOP resources that were used to support the Mitochondrial Medicine Frontier Program and the Center for Mitochondrial and Epigenomic Medicine. [3] The Complex Data Integration and Visualization Service provides access to a custom ‘IDDRC- Tableau’ data integration platform that accelerates research discovery by facilitating compilation, integration, visualization, and direct query of complex genetic and phenotypic data directly collated and modeled from diverse sources, including the electronic medical record. This service is particularly useful for review of cohort-level data, enabling outcome measure and subject selection for natural history studies and clinical trial development. Relevance to IDDRC Mission: The GDIC has been developed with careful attention to the overall theme of our IDDRC – “Genes, Brain and Behavior”. This encompasses efforts to understand developmental disabilities in three inter-related domains: (a) The genetic anlage which causes and/or modulates essentially all developmental disabilities; (b) The biochemical and neurophysiologic alterations which arise from genetic factors; and (c) The aberrant behaviors that we associate with these genetic and neurophysiologic changes, and which we recognize as the phenotypes of developmental disabilities. The GDIC provides analytical support for multiple domains of biomedical research, from basic science to clinical translational medicine. The GDIC will facilitate detailed understanding of the genetic etiology across both nuclear and mitochondrial genomes of intellectual and developmental disabilities (IDD). It will also provide researchers with access to a sophisticated informatics platform that will allow them to directly discover the phenotypic consequences of genetic alterations and identify therapeutic opportunities across targeted translational or clinical research cohorts. Overall, our goal is to make this world-class genomic data generation and analytics expertise available to all IDDRC users.