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.

National Institute of Health (NIH)
Eunice Kennedy Shriver National Institute of Child Health & Human Development (NICHD)
Center Core Grants (P30)
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Special Emphasis Panel (ZHD1-DSR-Y)
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Children's Hospital Boston
United States
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Soto-Rivera, Carmen L; Fichorova, Raina N; Allred, Elizabeth N et al. (2015) The relationship between TSH and systemic inflammation in extremely preterm newborns. Endocrine 48:595-602
Duffy, Frank H; Shankardass, Aditi; McAnulty, Gloria B et al. (2014) Corticosteroid therapy in regressive autism: a retrospective study of effects on the Frequency Modulated Auditory Evoked Response (FMAER), language, and behavior. BMC Neurol 14:70
O'Shea, T Michael; Joseph, Robert M; Kuban, Karl C K et al. (2014) Elevated blood levels of inflammation-related proteins are associated with an attention problem at age 24 mo in extremely preterm infants. Pediatr Res 75:781-7
Mellado Lagarde, Marcia M; Wan, Guoqiang; Zhang, LingLi et al. (2014) Spontaneous regeneration of cochlear supporting cells after neonatal ablation ensures hearing in the adult mouse. Proc Natl Acad Sci U S A 111:16919-24
Pekkurnaz, Gulcin; Trinidad, Jonathan C; Wang, Xinnan et al. (2014) Glucose regulates mitochondrial motility via Milton modification by O-GlcNAc transferase. Cell 158:54-68
Kong, Sek Won; Sahin, Mustafa; Collins, Christin D et al. (2014) Divergent dysregulation of gene expression in murine models of fragile X syndrome and tuberous sclerosis. Mol Autism 5:16
Logan, J Wells; Allred, Elizabeth N; Fichorova, Raina N et al. (2014) Endogenous erythropoietin varies significantly with inflammation-related proteins in extremely premature newborns. Cytokine 69:22-8
Painter, Michio W; Brosius Lutz, Amanda; Cheng, Yung-Chih et al. (2014) Diminished Schwann cell repair responses underlie age-associated impaired axonal regeneration. Neuron 83:331-43
Bankova, Lora G; Lezcano, Cecilia; Pejler, Gunnar et al. (2014) Mouse mast cell proteases 4 and 5 mediate epidermal injury through disruption of tight junctions. J Immunol 192:2812-20
Singh, Sasha A; Winter, Dominic; Kirchner, Marc et al. (2014) Co-regulation proteomics reveals substrates and mechanisms of APC/C-dependent degradation. EMBO J 33:385-99

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