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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
News Release
As researchers uncover millions of DNA differences in genes, doctors struggle to know which of these inherited differences, called variants, really matter.
… Steven Benowitz … As a growing number of medical centers and laboratories are sequencing patients' DNA, they continue … struggled to know which of these inherited differences - variants - really matter. … For the vast majority of the more … with the National Institutes of Health's Clinical Genome Resource (ClinGen) describe how the program is …
News Release
NIH and Inova Health are launching The Genomic Ascertainment Cohort, a pilot project that will examine gene and gene variant influence on phenotypes.
… Mjoseth … Databases such as the 1000 Genomes Project and the Exome Aggregation Consortium (ExAC) harbor large … the health consequences of their genes and gene variants. … Reversing a Long-Standing Paradigm To address … of 10,000 human genomes and exomes, the 1-2 percent of the genome that contains protein-coding genes. Once the database …
News Release
Scientists studying the genomes of nearly 5,000 people have pinpointed a genetic variant tied to an increased risk for stroke and cardiovascular disease.
… a genetic variant tied to an increased risk for stroke, and have also uncovered new details about an important … The investigators were supported by the National Human Genome Research Institute (NHGRI) Genomics and Randomized … researchers scan the genome to identify specific genomic variants associated with a disease. In this case, the …
News Release
Researchers at the NHGRI's Undiagnosed Disease Program have developed a new toolset for finding potential disease-causing gene variants in undiagnosed patients.
… new toolset for finding potential disease-causing gene variants in undiagnosed patients. The work is automatically … by computers - with no human interpretation or bias - and takes about three hours per exome to analyze an … in the Office of the Clinical Director, National Human Genome Research Institute. "The toolset we developed …
News Release
Genomic variants that increase risk of kidney disease are found in nearly one-third of West Africans
A study from researchers at National Institutes of Health (NIH) and their collaborators revealed a significant genetic risk factor for kidney disease in people of West African ancestry.
… from researchers at National Institutes of Health (NIH) and their collaborators revealed a significant genetic risk … disease. APOL1 is important for the immune system and variants of the gene are linked to increased risk of chronic … on Genomics and Global Health at NIH’s National Human Genome Research Institute (NHGRI). “By comparing this study …
CRGGH is now part of the newly-created Metabolic, Cardiovascular, and Inflammatory Disease Genomics Branch.
… the Intramural Research Program of the National Human Genome Research Institute (NHGRI) has been reorganized. As … this reorganization, the Center for Research on Genomics and Global Health (CRGGH) is now part of the newly-created Metabolic, Cardiovascular, and Inflammatory Disease Genomics Branch (MCIDGB). … As described by NHGRI …
News Release
NHGRI will highlight rare disease research that benefits affected patients and provides insights into more common disorders on Rare Disease Day.
… Jeannine Mjoseth … National Human Genome Research Institute (NHGRI) researchers are highlighting rare disease research that benefits affected patients and also provides insights into more common disorders.​ … …
News Release
In a large-scale study of people from diverse ancestries, researchers narrowed down the number of genomic variants that are strongly associated with blood lipid levels and generated a polygenic risk score to predict elevated low-density lipoprotein cholesterol levels, a major risk factor for heart disease.
… groups substantially improves identification of genomic variants associated with blood lipid levels. … In a … that are strongly associated with blood lipid levels and generated a polygenic risk score to predict elevated … The authors include researchers at the National Human Genome Research Institute (NHGRI), part of the National …
Research at NHGRI
The Metabolic, Cardiovascular and Inflammatory Disease Genomics Branch studies the genomic and social determinants of complex diseases.
… The Metabolic, Cardiovascular and Inflammatory Disease Genomics Branch (MCIDGB) studies the genomic and social determinants of complex diseases. … Investigators …
News Release
Researchers have conducted the first study to look at the genomic underpinnings of obesity in continental Africans and African Americans.
… genomic underpinnings of obesity in continental Africans and African Americans. They discovered that approximately 1 … clusters in families. Researchers at the National Human Genome Research Institute (NHGRI), part of the National … to search for regions of the genome that contain genomic variants associated with the condition. Most previous studies …