# Biostatistics and Bioinformatics: Core C

> **NIH NIH U54** · CHILDREN'S HOSP OF PHILADELPHIA · 2020 · $161,879

## Abstract

(BIOSTATISTICS AND BIOINFORMATICS (BBC): CORE C)
PROJECT SUMMARY
Description: The Biostatistics and Bioinformatics Core (BBC) provides comprehensive and expert analytic tools
for IDDRC users who require support in biostatistics, experimental design and/or the analysis of the large
datasets culled from DNA sequencing and cognate technologies. The Core has 3 components: (1) The
Biostatistics Service, reposed in the Department of Biostatistics and Epidemiology, provides support for
experimental design, including the design of clinical trials and the analysis of experimental results. Dr Mary
Putt, Core Director, serves as Vice-Chair of the Graduate Group in Epidemiology and Biostatistics and
Graduate Program Chair for Biostatistics; (2) The Bioinformatics Service supports the analysis of gene
sequences, copy number variants (CNVs) and genome-wide association studies. This effort is reposed in the
Center for Applied Genomics, directed by Dr Hakon Hakonarson, a pioneer in genomics and genome-wide
mapping. (3) The Mitochondrial DNA Analysis Service supports the analysis of mitochondrial DNA (mtDNA)
variants through the MitoMap system (http://mitomap.org), a meticulously curated database conceived,
developed and maintained by Dr Douglas Wallace (1). This effort is reposed in the Center for Mitochondrial
and Epigenomic Medicine, which Dr Wallace directs. Drs. Hakonarson and Wallace now join the Intellectual
and Developmental Disabilities Research Center (IDDRC) as Co-Directors of the BBC. The emphasis of the
Core is to assure: (a) Stringent quality control with respect to experimental design and statistical analysis,
thereby assuring that studies are properly controlled, adequately powered, cost-effective and in strict
conformity with all ethical standards; (b) Unfettered and expert access to state-of-the-art bioinformatics
resources for the analysis of genetic data, both nuclear and mitochondrial. Our goal is to make this expertise
available to all IDDRC users, both locally and throughout the IDDRC Network.
Relevance to IDDRC Mission: The BBC has been developed with careful attention to the overall theme of our
IDDRC – “Genes, Brain and Behavior”, or the effort 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 which we associate with these genetic and neurophysiologic changes and which we
recognize as the phenotypes of developmental disabilities. The Core is integrated into multiple domains of
biomedical research, from basic science to clinical translational medicine. The BBC will facilitate detailed
understanding of the genetics of intellectual and developmental disabilities (IDD). It will further ensure that
investigations of the phenotypic consequences of these genetic alterations are executed and analyzed
according ...

## Key facts

- **NIH application ID:** 9831582
- **Project number:** 5U54HD086984-05
- **Recipient organization:** CHILDREN'S HOSP OF PHILADELPHIA
- **Principal Investigator:** Mary E. Putt
- **Activity code:** U54 (R01, R21, SBIR, etc.)
- **Funding institute:** NIH
- **Fiscal year:** 2020
- **Award amount:** $161,879
- **Award type:** 5
- **Project period:** — → —

## Primary source

NIH RePORTER: https://reporter.nih.gov/project-details/9831582

## Citation

> US National Institutes of Health, RePORTER application 9831582, Biostatistics and Bioinformatics: Core C (5U54HD086984-05). Retrieved via AI Analytics 2026-05-26 from https://api.ai-analytics.org/grant/nih/9831582. Licensed CC0.

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