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- Developmental Genotype-Tissue Expression (dGTEx)1
- Multi-Omics for Health and Disease (Multi-Omics)1
- Ethical, Legal and Social Implications (ELSI) Research Program2
- Genomics-Enabled Learning Health Systems (gLHS)2
- Genetic Architecture of Complex Traits1
- Genome Technology Program1
- Impact of Genomic Variation on Function (IGVF) Consortium3
- Molecular Phenotypes of Null Alleles in Cells (MorPhiC)1
- Clinical Genome (ClinGen) Resource1
- Genomic Innovator Awards1
- 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
Event
The Excellence in Clinical Research Seminar Series is designed to facilitate clinical research in the rare disease space with a focus on aspects of regulatory medicine and clinical trials in Mendelian disorders.
… The Excellence in Clinical Research Seminar Series is designed to facilitate clinical research in the rare disease space with a focus on … clinical research with the underlying theme that genetics is both a diagnostic and therapeutic specialty. …
Event
The NHGRI Education and Community Involvement Branch is co-hosting a webinar on January 9 with the Undergraduate Genetics Education Network that will explore the changing landscape of genetics from a largely descriptive field and emerging creative fields.
… co-hosting a webinar on January 9 with the Undergraduate Genetics Education Network (UGEN) for the 5th Annual Virtual Workshop titled "Genetics Reimagined: Preparing Students to Explore the … workshop will explore the changing landscape of genetics from a largely descriptive field (how does it work?) …
Event
NHGRI hosted a webinar to provide an overview of the Investigator-Initiated Research on Genetic Counseling Processes and Practices Request for Applications (RFA-HG-20-048 and RFA-HG-20-049).
News Release
NIH researchers discover that while artificial intelligence (AI) tools can make accurate diagnoses from textbook-like descriptions of genetic diseases, the tools are significantly less accurate when analyzing summaries written by patients about their own health.
… These findings, reported in the American Journal of Human Genetics , demonstrate the need to improve these AI tools … said Ben Solomon, M.D., senior author of the study and clinical director at the NIH’s National Human Genome Research … fellow who led the study. “There are not very many clinical geneticists in the world, and in some states and …
Event
NHGRI meeting focused on research that rapidly advances best practices for the implementation of genomic sequence data into clinical care.
… for the implementation of genomic sequence data into clinical care, as well as research that combines … for the implementation of genomic sequence data into clinical care. … NHGRI meeting focused on research that … for the implementation of genomic sequence data into clinical care. … Event …
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.
… of Us identify thousands of associations of proteins and clinical phenotypes 1135W Ariel Williams SGLT2 Inhibitors … PheWAS analysis with PheTK 4043F Nephi Walton Defining a Clinical Data Ecosystem for Genomic Health 1120F … ASHG 2024 … ASHG Policy Forum: The Next Frontier of AI/ML in Human Genetics/Genomics Panelist/Speaker, Dave Kaufman 3:00 – 4:15 …
News Release
NIH researchers and collaborators have found that that sickle cell trait is prevalent among diverse human populations.
… with sickle cell disease. The study provides estimated clinical risks for people with sickle cell trait, which can inform clinical practice guidelines. Researchers examined the … in people with sickle cell trait,” said Rakhi Naik, M.D., clinical director for the Division of Hematology at Johns …
News Release
NIH is awarding $5.4 million in first-year funding to establish a new program that supports the integration of genomics into learning health systems. As genomic testing becomes increasingly common, more and more genomic data are available in clinical settings, and learning health systems present an opportunity to translate this evidence quickly and directly into improvements in medical care.
… the United States, learning health systems are a type of clinical practice that bridges research and patient care. … common, more and more genomic data are available in clinical settings, and learning health systems present an … this network together to move genomic discoveries into clinical practice. Learning health systems present an …
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.
About NHGRI
NHGRI is the driving force for advancing genomics research at the National Institutes of Health, the largest biomedical research agency in the world.
… biomedical research agency in the world. … Genomics, Genetics, Human Genome Project, Dna Sequencing, Human Genome …