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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
NHGRI considers the ethical, legal and social aspect of genomics research in our work, including these key policy issues
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.
… 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, … Genetic testing frequently identifies susceptibility variants in early-onset atrial fibrillation Germline genomic …
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 …
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
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 …
News Release
By considering mixed genetic lineages, NHGRI researchers demonstrated that previously inferred links between a genomic variant that helps digest lactose and traits such as a person’s height and cholesterol level may not be valid.
… demonstrated that previously inferred links between a genomic variant that helps digest lactose and traits such as … admixture in the population to uncover true links between genomic variants and traits.” To look at European genetic ancestry, …
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, …
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 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. …