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- Developmental Genotype-Tissue Expression (dGTEx)1
- Multi-Omics for Health and Disease (Multi-Omics)1
- Genomics-Enabled Learning Health Systems (gLHS)2
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- Enhancing Opportunities in Computational Genomics and Data Science1
- Impact of Genomic Variation on Function (IGVF) Consortium1
- Clinical Genome (ClinGen) Resource1
- Polygenic RIsk MEthods in Diverse populations (PRIMED) Consortium1
- NHGRI Genomic Data Science Analysis, Visualization and Informatics Lab-space (AnVIL)1
- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium1
Policy Issues
Federally-funded research with human participants must comply with regulations that protect the rights and welfare of the participants.
… including the complete sequencing of the human genome and identification of genetic markers for human … than ever before. These datasets can be used for genome-wide association studies (GWAS) that identify specific genomic …
Event
On November 5-9, 2024, the National Human Genome Research Institute (NHGRI) will participate in the ASHG Annual Meeting - the world's largest human genetics and genomics meeting and exposition. The annual meeting provides a forum for the presentation and discussion of cutting-edge science in all areas of human genetics.
… Wednesday, November 6, 2:30 – 4:30 p.m. Anas Awan Phenome-wide association study of MTHFR variant in UK Biobank and All of … Methylation and Transcriptomic Analyses with Whole Genome Sequencing YieldsNovel Insights into SARS-CoV-2 in …
The Genomics Landscape
In the February 2, 2023 edition of The Genomics Landscape, NHGRI Director, Eric Green, M.D., Ph.D., talks about the new NIH Data Management and Sharing (DMS) Policy and how it emphasizes the importance of good data management practices.
… to diversify genomics research.” All the best, … Genome-wide data from medieval German Jews show that the Ashkenazi … Treat, a pilot COVID-19 telehealth program NIH funds eight studies to advance rapid diagnosis of COVID-19-related …
National Advisory Council for Human Genome Research
The Director's Report Related documents contain links to materials supplemental to Dr. Eric Green's Director's Report presentation to the National Advisory Council for Human Genome Research in May 2019.
… Human Spaceflight Adopt a Moratorium on Heritable Genome Editing NIH Supports Call for Moratorium on Clinical … ENCODE Data on Amazon Web Services Gasperini - A Genome-Wide Framework for Mapping Gene Regulation via Cellular … Program Website eMERGE Tools Safarova – A Phenome-wide Association Study to Discover Pleiotropic Effects of PCSK9, …
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.
… genomics: the 30th anniversary of the launch of the Human Genome Project in October 2020. To amplify that drumbeat, the … and provide valuable data about gene expression across a wide range of human tissues throughout development, thereby aiding the interpretation of genome-wide association studies (GWAS) and other genomic research …
Event
On January 25, 2023, the National Human Genome Research Institute will hold a roundtable on social and behavioral genomics.
… of educational attainment” by the Social Science Genetic Association Consortium Problems with Using Polygenic Scores … and social justice lab … Biographies … The National Human Genome Research Institute (NHGRI) of the National Institutes … behavior. Panelists will discuss genetics and genomics studies that may be stigmatizing as well as strategies for …
The Genomics Landscape
In the December 3, 2020 edition of The Genomics Landscape, Dr. Eric Green spotlights on ELSIhub.
… that 20+ years later, we would be surveying the entire genome at once, even going into the ‘difficult regions’ to … of Columbia University, ELSIhub builds on insights from a wide-ranging needs assessment process, interviews, and … NHGRI program director, has been elected an American Association for the Advancement of Science (AAAS) Fellow for …
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.
… across the estimated 6 billion-letter code for their genome. Slight differences exist between individuals, making … 4 to 5 million such genomic variants in an individual’s genome. These variants may be unique to that individual or … a polygenic risk score comes from large scale genomic studies. These studies find genomic variants by comparing …
News Release
NHGRI has selected Charles Rotimi, Ph.D., as the next scientific director. In this role, he will lead the institute’s Intramural Research Program, which conducts basic and clinical research to enable a greater understanding of human disease and to develop better methods to detect, prevent and treat genetic disorders.
… NHGRI’s Intramural Research Program. … The National Human Genome Research Institute (NHGRI) has selected Charles … to watch his ever-increasing impact on genomics world-wide and the global recognition of his achievements.” The … facilitated the large-scale implementation of genome-wide association studies. He was an active scientist in the 1,000 …
The Genomics Landscape
In the April 2024 issue of The Genomics Landscape, NHGRI Director Eric Green details how the Office of Genomic Data Science (OGDS) is becoming the epicenter for genomic data science at the institute, with numerous collaborations, projects and activities.
… with type 2 diabetes in Nigerians Doumatey, et al. Genome Med ., 2024 Mar, PMID : 38444015 It is estimated … million people worldwide have type 2 diabetes. However, studies of this condition have mostly been performed in North … been honored with the 2024 George M. Kober Medal from the Association of American Physicians. The Kober Medal is one of …