Overall Objective The overall objective of the Molecular Genetics Core is to provide a central location where IDDRC investigators can have access to high quality, low cost genomic technology services and expertise in a timely, affordable manner. These services can be broken down into six main functional components: Sequencing;Microsatellite Genotyping;High-Throughput SNP Genotyping and qPCR;Microarray Analysis;Next-Generation Sequencing;and Sample Management. By utilizing automated instrumentation in conjunction with the most advanced genetic equipment, the Core strives to rapidly generate consistent and reliable data at a low cost to investigators for each of these services. Through strong bioinformatics support and harboring a full complement of technologies in one centralized unit, the Core aims to serve as a preeminent unique resource of genetic analysis knowledge for investigators pursuing a broader understanding of the genetic basis of developmental disabilities. Specific Objectives The specific objectives are as follows: -High-throughput, low cost DNA sequencing including support with primer design, purification techniques, and software analysis tools. -Microsatellite genotyping including support. -High-throughput quantitative and digital PCR services including support with assay design and software analysis tools. -High-throughput and microarray SNP genotyping services. -Microarray gene expression analysis (including splice-variant analysis) and gene discovery. -Genomic deep sequencing capabilities and analysis using next-generation sequencing technology including analysis software support. -DNA and RNA sample extractions from blood and saliva including sample storage and preparation for downstream applications. -Project design and bioinformatics support for all services offered.
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