Search Results
Facet (Page)
Refine Your Search
Audiences
Content Formats
Events
Sections
Video
Divisions
Programs
- Developmental Genotype-Tissue Expression (dGTEx)1
- Multi-Omics for Health and Disease (Multi-Omics)1
- Ethical, Legal and Social Implications (ELSI) Research Program7
- Genomics-Enabled Learning Health Systems (gLHS)2
- Genetic Architecture of Complex Traits1
- Genome Technology Program5
- Enhancing Opportunities in Computational Genomics and Data Science1
- Human Genome Reference Program (HGRP)2
- Impact of Genomic Variation on Function (IGVF) Consortium3
- Advancing Genomic Medicine Research (AGMR)1
- Encyclopedia of DNA Elements (ENCODE) Project1
- Molecular Phenotypes of Null Alleles in Cells (MorPhiC)1
- Clinical Genome (ClinGen) Resource1
- Genomic Innovator Awards2
- Polygenic RIsk MEthods in Diverse populations (PRIMED) Consortium1
- NHGRI Genomic Data Science Analysis, Visualization and Informatics Lab-space (AnVIL)2
- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium2
Research at NHGRI
NHGRI researchers are creating foundational tools and methods to expand genomics research, ultimately leading to medical breakthroughs.
… are creating foundational tools and methods to expand genomics research, ultimately leading to medical … are creating foundational tools and methods to expand genomics research, ultimately leading to medical … are creating foundational tools and methods to expand genomics research, ultimately leading to medical …
News Release
Over the last 20 years, three families have been unknowingly linked to one another by an unknown illness. Researchers at the National Human Genome Research Institute (NHGRI) and other organizations have now identified the cause of the illness, a new disease called CRIA syndrome. The results of their work were published on Dec. 11 in the journal Nature.
… Ganguly, Ph.D. … Mutations in the RIPK1 gene responsible for CRIA syndrome Over the last 20 years, three families have … have now identified the cause of the illness, a new disease called CRIA syndrome. The results were published …
The Genomics Landscape
In the October 1, 2020 edition of The Genomics Landscape, Dr. Eric Green reflects on the last 30 years since the launch of the Human Genome Project.
… launched. I was there on the starting line, then a postdoctoral research fellow in the laboratory of genomics … to have been awarded one of the first center grants for the Human Genome Project by the then-named National … Genome Project’s launch will culminate with publishing the new 2020 NHGRI Strategic Vision. I urge you to monitor …
News Release
CMG investigators have made significant inroads in discovering genes underlying Mendelian conditions and have uncovered 470 new, previously unknown conditions.
… Heart, Lung, and Blood Institute launched the Centers for Mendelian Genomics (CMGs) program nearly four years ago, … of as many Mendelian conditions as possible. … It's a huge challenge: There are an estimated 7,300 such … In studying nearly 9,000 families, they have uncovered 470 new, previously unknown conditions and learned important …
News Release
Evaluating genetic features of inherited diseases by sequencing the genetic code helps with the cost and time challenges in medical practice.
… and symptoms, House and his team gather to generate a list of all possible causes and, through blood work and … or another is the most appropriate test. But this new way of practicing is not without its challenges. With … Alabama at Birmingham (UAB) and the HudsonAlpha Institute for Biotechnology; The University of Utah in Salt Lake City; …
The Genomics Landscape
In the March 2020 edition of The Genomics Landscape, NHGRI Director Eric Green highlights the newly appointed Dr. Chris Gunter's role as Senior Advisor for Genomics Engagement as well as the 30 oral histories to celebrate the 30th anniversary of the launch of the Human Genome Project.
… This most recent AGBT general meeting, which featured a special lineup of speakers to help celebrate AGBT’s … throughout the program. As we quickly move into the new decade, NIH has embarked on an effort to develop a new NIH-Wide Strategic Plan for Fiscal Years 2021-2025. This new plan would succeed …
Research Funding
NHGRI is initiating a new program-the Impact of Genomic Variation on Function (IGVF) Consortium to develop a framework for systematically understanding the effects of genomic variation on genome function and how these effects shape phenotypes.
… Starita Douglas Fowler University of Washington The Center for Actionable Variant Analysis; measuring variant function … University Broad Institute, Massachusetts General Hospital A foundational resource of functional elements, TF footprints … that integrates genetic and genomic data, bioinformatic method results, and curated knowledge across common diseases …
The Genomics Landscape
In the September 2019 edition of The Genomics Landscape, NHGRI Director Eric Green details the American Society of Human Genetics' (ASHG) new strategic plan, which aims to get people everywhere to realize the benefits of genomics and genetics research.
… Green, M.D., Ph.D. … The research community recently lost a key contributor to the genomics revolution. Kary Mullis, … month. The 87th meeting of the National Advisory Council for Human Genome Research will take place on September 16. … human genetics and genomics specialists, has established a new strategic plan. Like NHGRI, ASHG periodically conducts …
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.
… has quickly become apparent that the year is going to be a very busy one for NHGRI and for the field of genomics more generally. Many … et al. Cell 185(25):4703–4716, 2022. PMC9793425 One method for studying the ancestry of a human population …
The Genomics Landscape
In the July 2020 edition of The Genomics Landscape, NHGRI Director Eric Green recalls the White House event announcing the draft human genome sequence.
… Eric Green, M.D., Ph.D. … As is likely the case for many of your organizations, NHGRI and NIH are starting to … back to the physical workplace. This will obviously be a complex and lengthy process! As has been the case for the … a recently published editorial in Science that describes a new NIH guidance that holds grantee investigators and …