# Genomics & Data Integration Core

> **NIH NIH P50** · CHILDREN'S HOSP OF PHILADELPHIA · 2021 · $189,108

## Abstract

(CORE D- GDIC: GENOMICS AND DATA INTEGRATION CORE)
PROJECT SUMMARY
Description: The Genomics and Data Integration Core (GDIC) provides comprehensive and expert analytic
guidance, sequencing, and informatics tools for IDDRC users who require support in genomic project planning,
data generation, analyses, interpretation, and informatics integration with complex data types and sources to
directly facilitate end-user research analyses and discovery. The core has three components: [1] The Genomic
Sequencing Service supports generation and expert informatician-based analysis of nucleotide sequences
obtained from either nuclear or mitochondrial DNA or RNA, including those taken from single cells and IPSCs.
This service is directed by Dr. Hakon Hakonarson, an internationally recognized pioneer in the use of genome-
wide mapping to understand the causes of IDD. [2] The Genomic Data Bioinformatics Resources & Variant
Analysis Education Service provides users with access to MITOMAP/MITOMASTER and MSeqDR, Web
toolkits in order to enable self-analysis of genetic variants in both nuclear and mitochondrial genomes. These
toolkits, developed by Drs. Douglas Wallace and Marni Falk, enjoy broad recognition as essential instruments
for understanding the genetics of mitochondrial disease. This service leverages CHOP resources that were used
to support the Mitochondrial Medicine Frontier Program and the Center for Mitochondrial and Epigenomic
Medicine. [3] The Complex Data Integration and Visualization Service provides access to a custom ‘IDDRC-
Tableau’ data integration platform that accelerates research discovery by facilitating compilation, integration,
visualization, and direct query of complex genetic and phenotypic data directly collated and modeled from diverse
sources, including the electronic medical record. This service is particularly useful for review of cohort-level
data, enabling outcome measure and subject selection for natural history studies and clinical trial development.
Relevance to IDDRC Mission: The GDIC has been developed with careful attention to the overall theme of our
IDDRC – “Genes, Brain and Behavior”. This encompasses efforts to understand developmental disabilities in
three inter-related domains: (a) The genetic anlage which causes and/or modulates essentially all developmental
disabilities; (b) The biochemical and neurophysiologic alterations which arise from genetic factors; and (c) The
aberrant behaviors that we associate with these genetic and neurophysiologic changes, and which we recognize
as the phenotypes of developmental disabilities. The GDIC provides analytical support for multiple domains of
biomedical research, from basic science to clinical translational medicine. The GDIC will facilitate detailed
understanding of the genetic etiology across both nuclear and mitochondrial genomes of intellectual and
developmental disabilities (IDD). It will also provide researchers with access to a sophisticated informatics
platform that w...

## Key facts

- **NIH application ID:** 10240002
- **Project number:** 1P50HD105354-01
- **Recipient organization:** CHILDREN'S HOSP OF PHILADELPHIA
- **Principal Investigator:** MARNI J FALK
- **Activity code:** P50 (R01, R21, SBIR, etc.)
- **Funding institute:** NIH
- **Fiscal year:** 2021
- **Award amount:** $189,108
- **Award type:** 1
- **Project period:** 2021-07-15 → 2026-05-31

## Primary source

NIH RePORTER: https://reporter.nih.gov/project-details/10240002

## Citation

> US National Institutes of Health, RePORTER application 10240002, Genomics & Data Integration Core (1P50HD105354-01). Retrieved via AI Analytics 2026-05-22 from https://api.ai-analytics.org/grant/nih/10240002. Licensed CC0.

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