U24HG012108

Laboratory, Data Analysis, and Coordinating Center (LDACC) for the Developmental Human Genotype-Tissue Expression Project - Project Abstract

We propose to establish the Laboratory, Data Analysis, and Coordinating Center (LDACC) for the Developmental Genotype-Tissue Expression (DGTEX) project to generate, analyze, and integrate multimodal genomic data from various tissues, with emphasis on multiple brain regions, across 4 age groups: infancy, early childhood, late childhood, and adolescence.

We will develop an atlas that integrates genotyping data and functional genomic data to help predict functional impact of noncoding genomic variants, both common and rare, on gene expression. Our project will address two key knowledge gaps.

First, large-scale efforts by GTEX and other consortia have focused on adult or prenatal ages and only to a limited extent on the postnatal developmental ages from birth to adolescence, critical periods because humans have prolonged postnatal development, particularly prominent in the brain.

Second, resolution at the level of specific cell types is lacking in many studies. Studying postnatal development at the level of specific cell types is critical because the effects of genetic variants on gene regulation are often cell-type specific.

To address these critical knowledge gaps, we propose to:

1) Create an atlas of pediatric tissue gene expression in bulk tissues and single cell populations.

2) Analyze differences in gene expression, regulation, and known expression QTLs and splicing QTLs across postnatal human development.

3) Create and make available a biobank of as many tissues as possible (up to 50 tissues per donor), and associated data for further characterization.

4) Develop a data portal for data dissemination as well as integration of our data with Genotype Tissue Expression (GTEX), Brain Initiative Cell Census Network (BICCN), and other consortia.

By so doing, we will radically expand upon earlier efforts by GTEX and create a comprehensive and broadly available community resource on human developmental tissues, to help drive research forward in multiple research fields, and generally any disease.

Yale Univ

NHGRI SUPPORTS THE DEVELOPMENT OF RESOURCES AND TECHNOLOGIES THAT WILL ACCELERATE GENOME RESEARCH AND ITS APPLICATION TO HUMAN HEALTH AND GENOMIC MEDICINE. A CRITICAL PART OF THE NHGRI MISSION CONTINUES TO BE THE STUDY OF THE ETHICAL, LEGAL AND SOCIAL IMPLICATIONS (ELSI) OF GENOME RESEARCH. NHGRI ALSO SUPPORTS THE TRAINING AND CAREER DEVELOPMENT OF INVESTIGATORS AND THE DISSEMINATION OF GENOME INFORMATION TO THE PUBLIC AND TO HEALTH PROFESSIONALS. THE SMALL BUSINESS INNOVATION RESEARCH (SBIR) PROGRAM IS USED TO INCREASE PRIVATE SECTOR COMMERCIALIZATION OF INNOVATIONS DERIVED FROM FEDERAL RESEARCH AND DEVELOPMENT, TO INCREASE SMALL BUSINESS PARTICIPATION IN FEDERAL RESEARCH AND DEVELOPMENT, AND TO FOSTER AND ENCOURAGE PARTICIPATION OF SOCIALLY AND ECONOMICALLY DISADVANTAGED SMALL BUSINESS CONCERNS AND WOMEN-OWNED SMALL BUSINESS CONCERNS IN TECHNOLOGICAL INNOVATION. THE SMALL BUSINESS TECHNOLOGY TRANSFER (STTR) PROGRAM IS USED TO FOSTER SCIENTIFIC AND TECHNOLOGICAL INNOVATION THROUGH COOPERATIVE RESEARCH AND DEVELOPMENT CARRIED OUT BETWEEN SMALL BUSINESS CONCERNS AND RESEARCH INSTITUTIONS, TO FOSTER TECHNOLOGY TRANSFER BETWEEN SMALL BUSINESS CONCERNS AND RESEARCH INSTITUTIONS, TO INCREASE PRIVATE SECTOR COMMERCIALIZATION OF INNOVATIONS DERIVED FROM FEDERAL RESEARCH AND DEVELOPMENT, AND TO FOSTER AND ENCOURAGE PARTICIPATION OF SOCIALLY AND ECONOMICALLY DISADVANTAGED SMALL BUSINESS CONCERNS AND WOMEN-OWNED SMALL BUSINESS CONCERNS IN TECHNOLOGICAL INNOVATION.

93.853 - Extramural Research Programs in the Neurosciences and Neurological Disorders

National Human Genome Research Institute (NHGRI) [HHS - NIH]

National Institute of Neurological Disorders and Stroke (NNDS) [HHS - NIH]

New Haven, Connecticut 065103206 United States

Single Zip Code

Laboratory, Data Analysis, and Coordinating Center (LDACC) for the Developmental Genotype-Tissue Expression Project(U24) (Clinical Trial Not Allowed) (RFA-HG-20-039)

Amendment Since initial award the total obligations have increased 767% from $1,000,000 to $8,668,711.