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Event

Genetics Reimagined: Preparing Students to Explore the Forefront of Research and Design

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?) …

News Release

Leading AI models struggle to identify genetic conditions from patient-written descriptions

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

Q&A with science journalist Angela Saini: Race, gender and genetics

NHGRI hosts a virtual Q&A with science journalist Angela Saini, author of “Superior: The Return of Race Science” on Thursday, July 23, 2020.

… in the way scientists thought about human variation and genetics. At a time when racialized nationalisms are a … Q&A with science journalist Angela Saini: Race, gender and genetics … NHGRI hosts a virtual Q&A with science journalist …

Event

Genetic Paternalism: Striking the Balance Between Expert Perspective and Patient Autonomy

On March 15, 2021, NHGRI’s Policy and Program Analysis Branch hosted a panel discussion exploring a constant tension at multiple levels in genomics research and medicine, from patient-provider interactions to research engagement with marginalized communities.

… tension that spans all areas of biomedical research and clinical practice is the question of how experts can act in …

Event

NHGRI at ASHG 2024 Annual Meeting

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 …

Event

NHGRI at ASHG 2023 Annual Meeting

On November 1-5, 2023, 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.

… PB5035 Rebekah Waikel Generative methods for Pediatric Genetics Education. PB2385 Edmond Wonkam Tingang Genome-Wide … with Gaucher disease PB4630 Oleg Shchelochkov Genomic and Clinical Correlates of Plasma Urate in the “All of Us” … HPS-1 pulmonary fibrosis PB2027 Zo Bly The landscape of clinical sequencing in diverse populations: lessons learned …

News Release

Genetic carriers for sickle cell disease have higher risks of blood clots across diverse ancestries

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 …

Event

2022 ASHG Annual Meeting

On October 25-29, 2022, 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.

… Hall 3:00 p.m. — 4:45 p.m. Evolutionary and Population Genetics Newfoundland and Labrador: A mosaic founder … South Exhibit Hall 3:00 p.m. — 4:45 p.m. Statistical Genetics and Genetic Epidemiology Local Ancestry at the MHC … South Exhibit Hall 3:00 p.m. — 4:45 p.m. Statistical Genetics and Genetic Epidemiology Developing an African …

News Release

NIH awards $27M to establish new network of genomics-enabled learning health systems

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.