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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
About Genomics
In 2003, an accurate and complete human genome sequence was finished two years ahead of schedule and at a cost less than the original estimated budget.
… available to scientists and researchers two years ahead of the original Human Genome Project schedule and at a cost … Project covers about 99 percent of the human genome's gene-containing regions, and it has been sequenced to an … series exploring the project's impact on the field of genomics and the careers of those involved. … Lessons …
Genetic Disorders
Hereditary hemochromatosis is a genetic disease that alters the body's ability to regulate iron absorption.
… untreated, it can lead to severe organ damage. Caucasians of northern European descent are at highest risk. An … food via the intestines. When there is an adequate amount of iron, the body reduces its absorption to avoid excessive … cancer, diabetes, heart disease and joint disease. The gene that causes hereditary hemochromatosis, called HFE, was …
Media Availability
Researchers find that more than 80 percent of mouse genes had variations in the nearby regulatory DNA that affects gene activity.
… and heart disease usually stem from a complicated mix of genetics and lifestyle. While changes in many genes … DNA sequences near genes that control when and how much a gene is turned on and off, or expressed, are often extremely … important for gene activity. … To paint a clearer picture of how such variation affects gene activity, Fernando Pardo …
The Genomics Landscape
In the September 3, 2020 edition of The Genomics Landscape, Dr. Eric Green talks about the Impact of Genomic Variation on Function (IGVF) Consortium, the 2020 Genomic Innovator Awards and more.
… Green, M.D., Ph.D. … As Summer 2020 comes to an end, many of us continue to spend the bulk of our time working from home. If you are seeking some virtual connections to genomics, I would like to offer some “remote learning” … and assaying for specific phenotypes; measuring changes in gene and regulatory element activity; identifying and testing …
Policy Issues
This glossary contains definitions for commonly used terms (such as "bill", "statute", "regulation" and more) found in the Genome Statue and Legislative Database.
… for commonly used terms (such as "bill", "statute", "regulation" and more) found in the Genome Statue and … proposed laws or proposals to repeal laws in one house of a legislature. Bills are generally designated by the house in which they are first introduced ("H" for House of Representatives, "S" for Senate) and numbered in order of …
News Release
Researchers identified 13 gene regions that influence cholesterol levels, some of which affected people differently if they are smokers or former smokers.
… has been a mystery - until now. … National Institutes of Health researchers and their collaborators identified 13 new gene regions that influence cholesterol levels, some of which … Human Genome Research Institute's Center for Research on Genomics and Global Health (CRGGH) . "This discovery will …
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.
… Jeannine Mjoseth … Researchers with the National Institutes of Health Undiagnosed Disease Program (UDP) have developed a … powerful new toolset for finding potential disease-causing gene variants in undiagnosed patients. The work is … technologies. The NIH study was published February 1 in Genomics in Medicine . "One of our goals was to improve upon …
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.
… sequencing technologies can generate detailed catalogs of genomic variants, researchers face an ongoing challenge of … focus on several key areas, such as study design, gene- and variant-level implication, databases and … Biesecker, M.D., co-author and chief of NHGRI's Medical Genomics and Metabolic Genetics Branch. "The peer review …
Fact Sheet
Several regulations and policies stipulate the information that must be given to research participants prior to their enrolling in a study.
… regulations may not require informed consent for all kinds of genomics research (e.g., if the samples or data are … biological products and devices. When the Common Rule regulation was revised in 2018 , it introduced a number of …
News Release
NIH programs are establishing which genes and genomic variants play a role in human disease, enabling use in medicine and research.
… Mjoseth … Programs supported by the National Institutes of Health are establishing which genes and genomic variants … which is a lack of evidence about the relationship between gene variants and diseases. A special issue of Human Mutation … developed by the American College of Medical Genetics and Genomics and the Association for Molecular Pathology to …