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.

Agency
National Institute of Health (NIH)
Institute
Eunice Kennedy Shriver National Institute of Child Health & Human Development (NICHD)
Type
Center Core Grants (P30)
Project #
5P30HD018655-31
Application #
8380415
Study Section
Special Emphasis Panel (ZHD1-DSR-Y)
Project Start
Project End
Budget Start
2012-07-01
Budget End
2013-06-30
Support Year
31
Fiscal Year
2012
Total Cost
$162,205
Indirect Cost
$68,984
Name
Children's Hospital Boston
Department
Type
DUNS #
076593722
City
Boston
State
MA
Country
United States
Zip Code
02115
O'Shea, Thomas M; Joseph, Robert M; Allred, Elizabeth N et al. (2018) Accuracy of the Bayley-II mental development index at 2 years as a predictor of cognitive impairment at school age among children born extremely preterm. J Perinatol 38:908-916
Liu, Yuanyuan; Latremoliere, Alban; Li, Xinjian et al. (2018) Touch and tactile neuropathic pain sensitivity are set by corticospinal projections. Nature 561:547-550
Chen, Bo; Li, Yi; Yu, Bin et al. (2018) Reactivation of Dormant Relay Pathways in Injured Spinal Cord by KCC2 Manipulations. Cell 174:521-535.e13
Ci, Yanpeng; Li, Xiaoning; Chen, Maorong et al. (2018) SCF?-TRCP E3 ubiquitin ligase targets the tumor suppressor ZNRF3 for ubiquitination and degradation. Protein Cell 9:879-889
Sieker, Jakob T; Proffen, Benedikt L; Waller, Kimberly A et al. (2018) Transcriptional profiling of articular cartilage in a porcine model of early post-traumatic osteoarthritis. J Orthop Res 36:318-329
Leviton, Alan; Allred, Elizabeth N; Joseph, Robert M et al. (2018) Behavioural dysfunctions of 10-year-old children born extremely preterm associated with corticotropin-releasing hormone expression in the placenta. Acta Paediatr 107:1932-1936
Sieberg, Christine B; Taras, Caitlin; Gomaa, Aya et al. (2018) Neuropathic pain drives anxiety behavior in mice, results consistent with anxiety levels in diabetic neuropathy patients. Pain Rep 3:e651
Markowitz, Jeffrey E; Gillis, Winthrop F; Beron, Celia C et al. (2018) The Striatum Organizes 3D Behavior via Moment-to-Moment Action Selection. Cell 174:44-58.e17
Masuyer, Geoffrey; Zhang, Sicai; Barkho, Sulyman et al. (2018) Structural characterisation of the catalytic domain of botulinum neurotoxin X - high activity and unique substrate specificity. Sci Rep 8:4518
Cakir, Bertan; Liegl, Raffael; Hellgren, Gunnel et al. (2018) Thrombocytopenia is associated with severe retinopathy of prematurity. JCI Insight 3:

Showing the most recent 10 out of 1442 publications