Search Results
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.
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. …
15 Ways Genomics Influences Our World
We are learning how our genomes serve as blueprints for life.
… but would not give information about how it's used. As genomic technology improved, more complicated maps could be … of Healthcare Provider Educational Resources Mapped to Genomic Competencies Health Education England - Genomics …
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, …
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 …
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 …
The Genomics Landscape
In the June 2, 2022 edition of The Genomics Landscape, NHGRI Director, Eric Green, M.D., Ph.D., highlights the new and improved Talking Glossary of Genomic and Genetic Terms - one of the premier educational resources offered by NHGRI, and it aims to help users better understand the basics of genomics and genetics.
… this analogy often applies when trying to identify genomic variants associated with phenotypes in large-scale sequence … is increasingly hosting genome-sequence datasets and other genomic datasets in cloud environments. Cloud-based computing …
The Genomics Landscape
In the January 5, 2023 edition of The Genomics Landscape, NHGRI Director, Eric Green, M.D., Ph.D., talks about how artificial intelligence and machine learning are becoming omnipresent throughout NHGRI and in genomics.
… and the small differences among human genomes (i.e., genomic variants) can lead to differences in how people metabolize … several researchers have been using AI to characterize genomic disorders and learn how to communicate genomic risk. …
Educational Resources
Genomics refers to the study of the entire genome of an organism whereas genetics refers to the study of a particular gene.
News Release
Researchers at the National Institutes of Health and their colleagues have identified genomic variants that cause a rare and severe inflammatory skin disorder, known as disabling pansclerotic morphea, and have found a potential treatment.
… Institutes of Health and their colleagues have identified genomic variants that cause a rare and severe inflammatory skin … in the body and play an important role in healing wounds. Genomic variation in the STAT4 gene causes disorganized …