# GENOMICS CORE

> **NIH NIH P50** · HUGO W. MOSER RES INST KENNEDY KRIEGER · 2021 · $173,953

## Abstract

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]).

## Key facts

- **NIH application ID:** 10227215
- **Project number:** 5P50HD103538-02
- **Recipient organization:** HUGO W. MOSER RES INST KENNEDY KRIEGER
- **Principal Investigator:** JONATHAN PEVSNER
- **Activity code:** P50 (R01, R21, SBIR, etc.)
- **Funding institute:** NIH
- **Fiscal year:** 2021
- **Award amount:** $173,953
- **Award type:** 5
- **Project period:** 2020-08-01 → 2025-05-31

## Primary source

NIH RePORTER: https://reporter.nih.gov/project-details/10227215

## Citation

> US National Institutes of Health, RePORTER application 10227215, GENOMICS CORE (5P50HD103538-02). Retrieved via AI Analytics 2026-05-23 from https://api.ai-analytics.org/grant/nih/10227215. Licensed CC0.

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