GENOMICS CORE

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PROJECT SUMMARY/ABSTRACT – GENOMICS CORE The goal of the Genomics Core is to provide IDDRC-supported projects with access to state-of-the-art technology and expertise relevant to understanding genetic factors associated with intellectual and developmental disabilities (IDD). The Genomics Core accomplishes its mission through four specific aims. In Aim 1, the Core provides consultation services for genomics research. These services include facilitating protocol development for IRB-approved human subject research, offering guidance to researchers and clinicians about study design and appropriate utilization of next-generation sequencing technologies and specialized genomics applications, and offering assistance in grant applications that involve genomics projects. The second Aim is to provide genomics services in the general areas of next-generation sequencing, genotyping, cytogenetics and chromosomal microarray analysis. This includes specialized genomic services ranging from whole exome and whole genome sequencing, RNA-seq, and ChIP-seq to single molecule sequencing. The Core offers a full-service CAP certified biorepository. For Aim 3 the Genomics Core assists with data analysis, offering guidance on the use of compute resources to store and analyze data including the interpretation of genomics data. Aim 4 is to provide educational activities and dissemination opportunities, including a variety of workshops and classes. These Specific Aims are integrated with each other and with other Cores of the IDDRC. The Genomics Core places a heavy emphasis on the etiology, natural history and prognosis of a variety of conditions associated with developmental delay and specific features of developmental disabilities. This emphasis helps IDDRC researchers to elucidate the phenotypic variations which are associated with genetic mutations (e.g., chromosomal anomalies, genomic copy number changes, single nucleotide variation and short insertions and deletions [indels]).