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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 …
Human Genome Project
Record and submit a short video, capturing your thoughts/concerns/excitement about the launch of the Human Genome Project.
Genomics and Medicine
Starting in 2019, the American Journal of Human Genetics has published an annual feature identifying ten key advances in applying genomic information to clinical care that were reported in the previous 12 months of published literature. The Genomic Medicine Working Group has authored these reviews, based on its broader effort to identify notable accomplishments in genomic medicine on a monthly basis. From this larger set of published accomplishments, the working group has continued to select ten papers annually to be highlighted as the most significant.
… US populations 5. Skeletal muscle ryanodine receptor 1 variants and malignant hyperthermia 6. Treating inherited … GA, Ramos EM, Roden DM, Rowley R, Taylor CO, Williams MS. Genomic medicine year in review: 2024 . Am J Hum Genet . 2024 … an annual feature identifying ten key advances in applying genomic information to clinical care that were reported in …
Research Funding
NHGRI aims to establish a research Consortium, ML/AI Tools to Advance Genomic Translational Research (MAGen), to collaboratively explore the feasibility of Machine Learning (ML) and Artificial Intelligence (AI) tools that can enhance the accuracy and precision of predicting how individuals with pathogenic genetic variants manifest disease.
… need for increased research to develop tools to translate genomic research findings into clinical applications has been … have successfully identified novel patterns in non-genomic clinical datasets, receiving FDA approval for … is a need to utilize advances in technologies to translate genomic research findings into tools for potential future …
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, will be better able to establish how the Y … 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 … 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 …
About Genomics
NHGRI considers the ethical, legal and social aspect of genomics research in our work, including these key policy issues
News Release
NIH will support research that incorporates DNA sequence information into electronic medical records.
… and Genomics (eMERGE) network is to better understand the genomic basis of disease and to tailor medical care to individual patients based on their genomic differences. … by identifying the potential medical effects of rare genomic variants (inherited differences in the DNA code) 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 … (CFTR) gene on chromosome 7. Each small “v” represents a genomic variant that is present in an individual’s genome but …
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.