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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
The Genomics Landscape
In 2022, The Genomics Landscape spotlighted genomic data sharing each month in a series of entries. This page contains a collection of each of those entries.
… central to the field of genomics. Both human and non-human genomic data have been widely shared through public data … the power of scientific investigation by allowing genomic data to be combined across studies, and accelerates … that the top contributors of clinically relevant genomic variants to ClinVar are commercial laboratories? These groups …
Human Genome Project
Record and submit a short video, capturing your thoughts/concerns/excitement about the launch of the Human Genome Project.
Genomics 101
Find out how the rapidly emerging field of genomics is transforming our understanding of human health and enabling advances that benefit all of humankind.
… and partnerships help spark scientific curiosity, improve genomic literacy, and foster engagement among learners in … in English and Spanish to help you dive in and learn key genomic concepts. Search for any genomic term to learn more.  … We're creating a world more …
The Genomics Landscape
In the April 2019 edition of The Genomics Landscape, NHGRI Director Eric Green previews the redesigned genome.gov website and its new features.
… inspirational piece illustrates yet another triumph of genomic medicine and offers hope for similar new treatments … informing policy, and educating society about genomic advances. A key element among these efforts is … There has been an explosion in the public's interest in genomic applications, including Direct-to-Consumer genomic …
The Genomics Landscape
In the September 2023 edition of The Genomics Landscape, NHGRI Director Eric Green, recaps the April 2023 virtual reunion of the leaders of the five genome-sequencing centers (G5), where they tell the untold story on how they ushered the Human Genome Project across the finish line in 2003.
… researchers are now finding previously unidentified genomic variants on the Y chromosome and, by studying these variants, … could not pinpoint the disease-causing in the implicated genomic region. In this paper, researchers at NHGRI, Boston …
News Release
NIH researchers identified gene variants that cause a rare syndrome of sporadic fevers, skin rashes and recurring strokes, beginning early in childhood.
… Institutes of Health researchers have identified gene variants that cause a rare syndrome of sporadic fevers, skin … genome sequencing playing a central role in revealing the genomic basis for an important rare disease," said Eric D. … another harmful variant of CECR1 in addition to a small genomic deletion that shuts down the second copy of the gene. …
The Genomics Landscape
In the April 7, 2022 edition of The Genomics Landscape, NHGRI Director, Eric Green, M.D., Ph.D., highlights the Telomere-to-Telomere (T2T) consortium's publishing of a collection of papers that reported the first truly complete sequence of the human genome.
… specifically, the Office of Communications, the Office of Genomic Data Science, and the Training, Diversity, and Health … Office.  All the best,   … When pursuing clinical genomic studies, it is important to be transparent with both … that the top contributors of clinically relevant genomic variants to ClinVar are commercial laboratories? These groups …
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 … we developed significantly narrows down the number of genomic changes that could be responsible for an individual's … a menu of techniques to detect potentially harmful gene variants. Researchers found, on average, 6.6 faulty genes in …
News Release
NHGRI researchers identified 59 genes or gene regions linked to canine athletics.
… have identified about 200 germline mutations - gene variants that can be passed on to subsequent generations - … resistance. Because it's difficult to identify gene variants' influence on human populations over time, NHGRI … turned to domesticated dogs to learn about gene variants for athletic performance. "Identifying gene variants …
Health
A polygenic risk score is one way by which people can learn what their risk of developing a disease is, based on the total number of genomics variants related to the disease.
… making each of us unique. These differences, called genomic variants, occur at specific locations within the DNA. DNA is … and guanine, abbreviated with the letters A, T, C and G. A genomic variant occurs in a location within the DNA where …