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- Developmental Genotype-Tissue Expression (dGTEx)1
- Multi-Omics for Health and Disease (Multi-Omics)1
- Genomics-Enabled Learning Health Systems (gLHS)2
- Genome Technology Program2
- Enhancing Opportunities in Computational Genomics and Data Science1
- Impact of Genomic Variation on Function (IGVF) Consortium1
- Clinical Genome (ClinGen) Resource1
- Polygenic RIsk MEthods in Diverse populations (PRIMED) Consortium1
- NHGRI Genomic Data Science Analysis, Visualization and Informatics Lab-space (AnVIL)1
- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium1
Fact Sheets
Estimated cost of sequencing the human genome over time since the Human Genome Project.
… have led to substantial reductions in the cost of genome sequencing. The underlying costs associated with … (see Figure 1). With the growing scale of human genetics studies and the increasing number of clinical applications … the latter number represents the total U.S. funding for a wide range of scientific activities under the HGP's umbrella …
Research Funding
The developmental Genotype-Tissue Expression initiative's goal is to catalog and analyze transcriptional profiles from a wide variety of tissues from the pediatric period, including neonates through adolescents, in a post-mortem setting.
… (LDACC)  Institution Location Award Number New York Genome Center New York, NY HG012090 Massachusetts General … and the Office of Research Infrastructure Programs (ORIP), studies developmental gene expression patterns in two species … a comprehensive dataset of gene expression across a wide range of human tissues throughout development, filling a …
Research Funding
The Encyclopedia of DNA Elements (ENCODE) aims to identify all functional elements in the human and mouse genomes.
… HG009390 Erez Lieberman Aiden Baylor College of Medicine Genome-Wide Mapping of Loops Using In Situ Hi-C UM1 HG009375 Mats … Center for Mapping Regulatory Regions of the Human Genome UM1 HG009442 John Stamatoyannopoulos Altius Institute …
Staff
Dr. Minear is a program director in NHGRI's Division of Genomic Medicine.
… and public health. Before joining the National Human Genome Research Institute, Dr. Minear was a Program Officer … Engineering, and Medicine (NASEM) and the American Association for the Advancement of Science (AAAS) Science & … AJ, Klintworth GK, Lass JH, Li YJ, Iyengar SK. Genome-wide association study identifies three novel loci in Fuchs …
Research Funding
The Genomics of Gene Regulation project develops methods to construct predictive, accurate gene regulatory network models using genomic data​​.
… variation, particularly in non-coding regions of the genome. This is a highly significant problem, as the vast majority of disease-associated variants found using GWAS lie outside of protein-coding sequences. Many of these …
Research Funding
Applications demonstrating excellent grantsmanship, grant mechanisms and research methodologies common to ethical, legal and social implications research.
… Statement Full Application Returning Exome and Whole Genome Results to Underserved Minority Populations Joon-Ho Yu … The R01 mechanism is intended for well-integrated studies that build on preliminary data using either single or … Statement Full Application Clinical Integration of Whole Genome Sequencing: A Policy Analysis David Kaufman Amy …
Staff
Joannella Morales is a program director in NHGRI's Division of Genomic Medicine.
… January 2021. She is a Project Scientist for the Clinical Genome Resource (ClinGen), a consortium of more than 1,400 … team and as a Senior Scientific Curator for the NHGRI-EBI GWAS Catalog. Prior to that, Dr. Morales served as a Team …
News Release
NIH will fund grants totaling $38 million over five years to develop methods that will improve the way that polygenic risk scores can be used to predict disease in diverse communities.
… with and without a particular disease. The National Human Genome Research Institute (NHGRI), part of NIH, will fund six …
News Release
NIH researchers have created a data resource show how differences in an individual's genome can affect gene activity and contribute to disease.
… the NIH Common Fund and administered by the National Human Genome Research Institute (NHGRI), the National Institute of … variants affect gene expression activity. An eQTL is an association between a variant at a specific genomic location … in the GTEx samples from deceased donors. Two companion studies in Science used GTEx data to examine other aspects of …
Research Funding
A list of current and previous Centers of Excellence in Genomic Science (CEGS) grant awards.
… to drugs or other environmental perturbations. However, genome sequencing and clinical genetic testing have far … technologies for mapping variant effects at scale across a wide range of environmental conditions, genetic contexts, and … introduce a new experimental platform paradigm to genomic studies of live cells and tissues that will allow scientists …