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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
- Genome Technology Program2
- 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
News Release
National Institutes of Health researchers have published an assessment of 13 studies that took a genotype-first approach to patient care.
… of Health researchers have published an assessment of 13 studies that took a genotype-first approach to patient care. … Ph.D., a genetic counselor at the National Human Genome Research Institute’s (NHGRI) Reverse Phenotyping Core … more than 16,000 research participants who have undergone genome or exome sequencing. Exome and genome sequencing data …
News Release
An expert panel from the Clinical Genome Resource (ClinGen) has critically reevaluated the scientific evidence for all 17 reported genes, disputing nine of the genes and revealing only three of the genes to be definitively associated with the most common form of the disease.
… inherited heart condition. However, the Clinical Genome Resource ’s (ClinGen) expert panel has critically … of the disease. The work was funded by the National Human Genome Research Institute (NHGRI), part of the National … , the peer-reviewed journal of The American Heart Association. … Twenty years ago, The New York Times published …
News Release
Researchers have now identified three health conditions for which people with SCT are at increased risk.
… and Behavioral Research Branch at the National Human Genome Research Institute (NHGRI), part of the National … Hematologists and sickle cell experts evaluated the association of SCT with 24 health conditions based on a … between 1970 to 2018. Of more than 7,000 screened studies, they included 41 in the review. Researchers found a …
News Release
Genomic variants that increase risk of kidney disease are found in nearly one-third of West Africans
A study from researchers at National Institutes of Health (NIH) and their collaborators revealed a significant genetic risk factor for kidney disease in people of West African ancestry.
… on Genomics and Global Health at NIH’s National Human Genome Research Institute (NHGRI). “By comparing this study to previous studies involving the African American population, we can … seen most often in people of West African ancestry, other studies have found these variants in people from Europe, …
News Release
Scientists are exploring the genomic and clinical profiles of people with RUNX1 familial platelet disorder.
… and Functional Genomics Branch at the National Human Genome Research Institute (NHGRI), who has led an NIH … publishing two papers about their clinical and genomic studies of RUNX1-FPD. "Our study represents the largest … over 100 participants with RUNX1 variants, analyzing their genome, blood, bone marrow and other systems. The …
The Genomics Landscape
In May 4, 2023 edition of The Genomics Landscape, NHGRI Director, Eric Green, M.D., Ph.D., details a report released by the National Academies of Science, Engineering, and Medicine, that provided a series of recommendations for using population descriptors in future genetics and genomics studies.
… the 20th anniversary of the completion of the Human Genome Project, and the 20th anniversary of National DNA Day. … will focus on advances in single-cell analysis and genome-wide regulatory mechanisms. Each session will be followed by … the rapid increase in the number of published genome-wide association studies (GWAS). These studies provide an …
Profile
NHGRI researchers recently published a study using virtual reality simulations to investigate how clinicians might use a type of genomic risk information called polygenic risk scores in medical care.
… be — used equitably. … Researchers at the National Human Genome Research Institute (NHGRI), part of the National …
News Release
A study published NIH researchers revealed that about half of individuals who said they don’t want to receive secondary genomic findings changed their mind after their healthcare provider gave them more detailed information.
… The study was led by scientists at the National Human Genome Research Institute (NHGRI) and the National Institute … del Aguila III, NHGRI.  With the broader adoption of genome sequencing in clinical care, researchers and the … if they would like to receive them. But research studies should create a system that also allows people who do …
News Release
Research studies are now using polygenic risk scores to determine a person’s inherited risk for certain diseases, but there are inconsistencies in how these scores are calculated. NHGRI has published guidelines in Nature for how these scores should be reported.
… new approach will be used as a framework for publishing studies on polygenic risk scores. … Scientists and healthcare … the research teams, funded primarily by the National Human Genome Research Institute (NHGRI), have published a 22-item … studies. This framework — created by NHGRI’s Clinical Genome Resource's (ClinGen) Complex Disease Working Group …
News Release
NIH researchers researchers and collaborators have gained some key insights into the biological inner-workings of regrowing a body, the evolution of aging and a unique method to dispose of aging cells, by studying the genomes of a hermit crab (Hydractinia symbiolongicarpus).
… new perspective on how aging evolved.  View on YouTube  “Studies like this that explore the biology of unusual … of the Intramural Research Program at the National Human Genome Research Institute (NHGRI), part of NIH. “Such … pointed to senescence, the researchers scanned the genome of Hydractinia for sequences like those of …