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- Ethical, Legal and Social Implications (ELSI) Research Program6
- Genomics-Enabled Learning Health Systems (gLHS)2
- Genetic Architecture of Complex Traits1
- Genome Technology Program5
- Human Genome Reference Program (HGRP)2
- Impact of Genomic Variation on Function (IGVF) Consortium3
- Encyclopedia of DNA Elements (ENCODE) Project1
- Molecular Phenotypes of Null Alleles in Cells (MorPhiC)1
- Genomic Innovator Awards2
- NHGRI Genomic Data Science Analysis, Visualization and Informatics Lab-space (AnVIL)3
- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium2
- Developmental Genotype-Tissue Expression (dGTEx)1
- Multi-Omics for Health and Disease (Multi-Omics)1
Event
NHGRI workshop seeking scientific perspectives for relating genomic variation to human phenotype.
… p.m. Current State of the Art in Variant Discovery and Association Amit Khera Laura Bierut Jonathan Haines 12:10 - … 23, 2019 8:00 - 8:15 a.m. Introduction: Variant and Genome Function NHGRI Staff 8:15 - 9:00 a.m. Current State of … is needed to overcome barriers to performing functional studies at scale? 10:15 - 10:30 a.m Breakout Session Charge …
News Release
Researchers identified regions of the genome associated with skin color variation in some African populations, furthering skin disease and cancer research.
… researchers has identified new regions of the human genome that are associated with skin color variation in some … Tanzania and Botswana has shed light on regions of the genome not previously associated with skin color. Hands of … Genetic Disease Research Branch at NIH's National Human Genome Research Institute. "The paper also provides a …
The Genomics Landscape
In May 4, 2023 edition of The Genomics Landscape, NHGRI Director, Eric Green, M.D., Ph.D., details a report released by the National Academies of Science, Engineering, and Medicine, that provided a series of recommendations for using population descriptors in future genetics and genomics studies.
… the 20th anniversary of the completion of the Human Genome Project, and the 20th anniversary of National DNA Day. … will focus on advances in single-cell analysis and genome-wide regulatory mechanisms. Each session will be followed by … the rapid increase in the number of published genome-wide association studies (GWAS). These studies provide an …
News Release
Four NIH grants will support research on the ethical, legal and social questions raised by genomics research advances and genomic information.
… at interdisciplinary centers through the National Human Genome Research Institute's (NHGRI) Centers of Excellence in … in 2004, is designed to bring together experts in wide-ranging fields - bioethics, law, behavioral and social … . … Impact on Society … Related Content … NIH funds new studies on ethical, legal and social impact of genomic …
Genomics and Medicine
The categories for the notable accomplishments of research are defined as research that uses genomics to generate or study.
Research Funding
The Genomic Variation Program supports large-scale studies of human genetic variation.
… false detection rate of 5 percent. About 96 percent of the genome can be studied with high confidence. More than 80 … The Genomic Variation Program supports large-scale studies of human genetic variation as part of projects such … and responses to drugs and environmental factors, such as association and admixture approaches, and how to use patterns …
News Release
Diverse populations are still underrepresented in public genomic databases, according to a new study by researchers from the NIH and Harvard Medical School.
… to European populations in two public databases, the Genome-Wide Association Study Catalog (GWAS) and the database of …
Research Funding
The centers define the state-of-the-art study designs and methods to find variants and genes underlying Mendelian disorders.
… The National Human Genome Research Institute funded the Centers for Mendelian … of the genetic basis of Mendelian disorders using genome-wide approaches, which are more rapid and …
News Release
NIH expands its Encyclopedia of DNA Elements Project, which is creating a fundamental genomics resource scientists to study human health and disease.
… tools and analyses that are being used extensively in studies to interpret genome sequences and to understand the consequence of genomic … Feingold, Ph.D., a program director in the Division of Genome Sciences at NHGRI. "These awards provide the …
Policies and Guidance
Broad data sharing promotes maximum public benefit from federally funded genomics research. NHGRI supports the broadest appropriate genomic data sharing with timely data release through widely accessible data repositories. These repositories may be open access (unrestricted) or, if more appropriate, controlled access.
… access. … Whenever possible, NHGRI strongly encourages studies involving human data to use data generated from … to single nucleotide polymorphism (SNP) array data, genome sequence data, transcriptomic data, epigenomic data, … … NOT-HG-21-022 : Notice Announcing the National Human Genome Research Institute’s Expectation for Sharing Quality …