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- Developmental Genotype-Tissue Expression (dGTEx)1
- Multi-Omics for Health and Disease (Multi-Omics)1
- Ethical, Legal and Social Implications (ELSI) Research Program6
- Genomics-Enabled Learning Health Systems (gLHS)2
- Genetic Architecture of Complex Traits1
- Genome Technology Program5
- Enhancing Opportunities in Computational Genomics and Data Science1
- Human Genome Reference Program (HGRP)2
- Impact of Genomic Variation on Function (IGVF) Consortium3
- Advancing Genomic Medicine Research (AGMR)1
- Encyclopedia of DNA Elements (ENCODE) Project1
- Molecular Phenotypes of Null Alleles in Cells (MorPhiC)1
- Clinical Genome (ClinGen) Resource1
- Genomic Innovator Awards2
- Polygenic RIsk MEthods in Diverse populations (PRIMED) Consortium1
- NHGRI Genomic Data Science Analysis, Visualization and Informatics Lab-space (AnVIL)2
- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium2
Research Funding
Bioinformatics and computational biology are cross-cutting areas broadly relevant and fundamental across the entire spectrum of genomics.
… the NIH-funded biomedical data science ecosystem. Read the Genomic Data Science Fact Sheet . See the Draft 2023-2028 NIH … of disease; the implementation and effectiveness of genomic medicine, computational genomics and data science; … and ethical, legal, and social issues related to genomic advances." … The Computational Genomics and Data …
News Release
An expert panel from the Clinical Genome Resource (ClinGen) has critically reevaluated the scientific evidence for all 17 reported genes, disputing nine of the genes and revealing only three of the genes to be definitively associated with the most common form of the disease.
… for ClinGen and program director in the Division of Genomic Medicine at NHGRI. … “Our study highlights the need … considered the paper as one of the top 10 advances in genomic medicine. With over 20 expert panels working on …
Event
NHGRI workshop seeking scientific perspectives for relating genomic variation to human phenotype.
… strategy to advance our ability to find and characterize genomic variants, the genomic elements in which they reside or that they affect and … … MD … 1750 Rockville Pike … From Genome to Phenotype: Genomic Variation Identification, Association, and Function …
News Release
CMG investigators have made significant inroads in discovering genes underlying Mendelian conditions and have uncovered 470 new, previously unknown conditions.
… it was charged with the ambitious task of identifying the genomic underpinnings of as many Mendelian conditions as … in a single gene. So far, researchers have identified the genomic causes for only about half. Individually, a rare … have also made more than 960 discoveries linking specific genomic changes with diseases. These include 375 previously …
News Release
NHGRI-funded CSER investigators and colleagues point to need for greater evidence that DNA sequencing helps patients.
… genomics in medicine. CSER investigators have discovered genomic variants - differences in the DNA code - that could … Health, is nearing the end of its first round of research awards. To help identify the direction of a potential … Bethesda, Maryland, for a one-day conference, Integrating Genomic Sequencing into Clinical Care: CSER and Beyond . The …
Research Funding
ClinGen will advance genomics in clinical care and improve our understanding of phenotypic and functional effects of genetic variants and their clinical value.
… to disease. As a result, information on only a few genomic variants is used in clinical practice. One factor … are developing standard approaches for sharing genomic and phenotypic data provided by clinicians, … standardize the clinical annotation and interpretation of genomic variants. Working groups are implementing …
Event
On August 15-16, the National Human Genome Research Institute (NHGRI), the National Science Foundation (NSF) and the United States Department of Agriculture (USDA) sponsored a meeting Perspectives in Comparative Genomics and Evolution at the Bethesda North Marriott Hotel & Conference Center in Rockville, Maryland.
… comparative genomics with a focus on commonalities across genomic investigations into humans, model organisms (both …
News Release
20 papers published online in 2014 highlight research on DNA biorepositories and electronic medical records to better understand the genomics of disease.
… patient's data and disease characteristics with his or her genomic information collected from stored tissue specimens in … ancestries across the network can be harnessed in large genomic discovery studies. Several studies aimed to show the usefulness of electronic medical records in genomic research studies to understand gene-disease …
Event
On March 1, 2018, over 65 basic research, clinical, and bioinformatic scientists in the genomics community convened for a four-hour web meeting on NHGRI-funded components of the Genome Reference Consortium (GRC).
Professional Development
This is a fellowship program designed for recent undergraduates to gain exposure to and training in multiple career paths that advance public service for human genetics and genomics.
… directors in the NHGRI Extramural Research Program, which awards grants to academic and biotechnology communities to …