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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 …
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
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 …
About Genomics
NHGRI considers the ethical, legal and social aspect of genomics research in our work, including these key policy issues
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 August 6, 2020 edition of The Genomics Landscape, Dr. Eric Green talks about NHGRI's completion of the third phase of the ENCODE Project and how it reveals the most extensive catalog to date of candidate functional elements that may regulate the genes in the human and mouse genomes.
… – ENCODE was able to develop an updated and much-improved genomic encyclopedia, expanding its provision of critical … in the ENCODE 3 publications also help to explain how genomic variation outside of protein-coding regions can … will continually help to advance our understanding of genomic basis of human traits and diseases. With the success …
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 …
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 …
About Genomics
The Human Genome Project was an inward voyage of discovery led by an international team of researchers looking to sequence and map all the genes of our species.
The Genomics Landscape
In the June 2018 issue of The Genomics Landscape, NHGRI Director Eric Green highlights the success of The Cancer Genome Atlas.
… has been hugely successful in its mission to catalog the genomic changes underlying multiple cancer types. Ambitious … as a three-year pilot study that focused on studying the genomic changes in three types of human cancers: brain, lung, … that it surpassed that goal, eventually analyzing the genomic underpinnings of 33 different types of cancer, …