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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
Research Funding
The E​MERGE Network develops, disseminates and applies approaches to research that combine biorepositories with electronic medical record systems.​
… Holm, and Digna Velez-Edwards Develop and maintain network wide protocol Recruitment & barriers Retention strategies … on understanding how best to validate and implement genome informed risk assessments, which are defined as a … or disease risk, and genomic variation. These genome wide association studies (GWAS) conducted with EMR data helped …
Staff
Heather Colley is a Lead Research Training and Career Development Program Officer at the National Human Genome Research Institute.
… Career Development Program Officer at the National Human Genome Research Institute (NHGRI). Heather manages a … Parkinson H. The new NHGRI-EBI Catalog of published genome-wide association studies (GWAS Catalog). Nucleic Acids Res , …
Research Funding
Building upon a foundation of quantitative genetics laid over a century ago, applying modern genomic approaches to resolve how genetic and non-genetic factors shape variation in human diseases and traits.
… issues have recently risen to the fore as large-scale genome-wide association studies (GWAS) reveal differences in apparent …
Research Funding
NHGRI is initiating a new program-the Impact of Genomic Variation on Function (IGVF) Consortium to develop a framework for systematically understanding the effects of genomic variation on genome function and how these effects shape phenotypes.
… prioritization of systematic perturbations of the human genome HG011967 Soumya Raychaudhuri Alkes Price Shamil … Genome to Phenotype: Genomic Variation Identification, Association, and Function in Human Health and Disease" ( … in cis and in trans by combining multi-ancestry genome-wide association studies with CRISPR perturbations and …
Event
On November 1-5, 2023, the National Human Genome Research Institute (NHGRI) will participate in the ASHG Annual Meeting - the world's largest human genetics and genomics meeting and exposition.  The annual meeting provides a forum for the presentation and discussion of cutting-edge science in all areas of human genetics.Â
… Pediatric Genetics Education. PB2385 Edmond Wonkam Tingang Genome-Wide Sequencing Implicates Monogenic Disruption of Vascular … - 4:15 p.m. Faith Pangilinan Performance of a genome-wide association study of neural tube defects allows an unbiased …
Staff
Dr. Teri Manolio is the director of the Division of Genomic Medicine at the National Human Genome Research Institute. ​
… expanding knowledge base of genetic associations and genome-scale analytic technologies to clinical problems of … in Practice (IGNITE) Network, and the NHGRI Genome-Wide Association Catalog . Dr. Manolio came to NHGRI from NIH's …
Policies and Guidance
For FY21, NHGRI’s extramural program will be operating under the NHGRI 2020 Strategic Vision.
… and approved by the National Advisory Council for Human Genome Research (NACHGR). The focus of NHGRI funding support … approaches, and technologies that accelerate and support studies focused on the structure and biology of genomes; the … number of competing awards in FY 2020. Consistent with NIH-wide policies, no inflationary increases will be allowed for …
News Release
Scientists from the 1000 Genomes Project Consortium has created the world's largest catalog of genomic differences among humans.
… addition to new methods of prevention. The National Human Genome Research Institute (NHGRI), part of the National … sites in the human genome, and can now be used in a wide range of studies of human biology and medicine, … uses of 1000 Genomes Project data is for genome-wide association studies (GWAS), which compare the genomes of …
News Release
Researchers recommend genomic approaches to discovering inherited variants in one or a handful of genes that affect an individual's rare disease risk.
… Steven Benowitz … While the latest genome sequencing technologies can generate detailed catalogs … in the clinic based on questionable evidence of an association," said co-author Teri Manolio, M.D., Ph.D., … genomic variants," he added. One such tool - the genome-wide association study (GWAS), in which researchers compare …
Staff
Dr. Rongling Li is an epidemiologist and program director in the Division of Genomic Medicine at the National Human Genome Research Institute.
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… in the past 10 years. Prior to joining the National Human Genome Research Institute in February 2009, Dr. Li worked at … of 83,717 subjects imputed to ~40?million variants genome wide and association with the herpes zoster medical record phenotype. …