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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
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
NHGRI has appointed Chris Gunter, Ph.D., as a senior advisor for genomics engagement. In this role, Dr. Gunter will advise the NHGRI director and the institute on issues and challenges associated with engaging the public about genomics and genomic medicine.
… Prabarna Ganguly, Ph.D. … The National Human Genome Research Institute (NHGRI) has appointed Chris Gunter, … She will be a valued advisor to me across a wide range of areas of ongoing and potential future institute …
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 …
Genetic Disorders
Fragile X syndrome is an inherited intellectual disability caused by a mutation in the FMR1 gene.
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 new study examines why some people grow out of childhood attention deficit hyperactivity disorder (ADHD), while others continue to have symptoms as adults.
… Mjoseth … A new study by researchers at the National Human Genome Institute (NHGRI) examined why some people grow out of … participants' long-term commitment to ADHD research make studies like this possible. "We first met these individuals …
Event
The Journeys in Human Genetics and Genomics Colloquium is part of a training partnership between ASHG and NHGRI to showcase the depth and breadth of exciting scientific, clinical, and societal elements of human genetics and genomics at an introductory level as well as to illustrate the myriad associated career opportunities.
… Society of Human Genetics (ASHG) and the National Human Genome Research Institute (NHGRI). The goal of the colloquium …
News Release
Researchers recommend more rigorous clinical study of dietary management practices for patients with IEMs, which may result in reformulating some medical foods.
… to a research team led by scientists at the National Human Genome Research Institute (NHGRI), part of the National … in the need to reformulate some medical foods. In two studies appearing online August 13, 2015 and in the August … information about NHGRI can be found at its website, www.genome.gov . About the National Institutes of Health (NIH): …