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- Multi-Omics for Health and Disease (Multi-Omics)1
- Ethical, Legal and Social Implications (ELSI) Research Program2
- Genomics-Enabled Learning Health Systems (gLHS)2
- Genome Technology Program1
- Impact of Genomic Variation on Function (IGVF) Consortium1
- Clinical Genome (ClinGen) Resource1
- Polygenic RIsk MEthods in Diverse populations (PRIMED) Consortium1
- 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.
… is designed to facilitate clinical research in the rare disease space with a focus on regulatory medicine and … is designed to facilitate clinical research in the rare disease space with a focus on aspects of regulatory medicine … is designed to facilitate clinical research in the rare disease space with a focus on aspects of regulatory medicine …
Event
A joint NHGRI-NCATS hosted meeting bringing together researchers, clinicians, families and patient advocates from around the world to discuss the natural history, disease pathophysiology, genetics and treatments for rare inborn metabolic errors.
… from around the world to discuss the natural history, disease pathophysiology, genetics and treatments for rare … from around the world to discuss the natural history, disease pathophysiology, genetics and treatments for rare … from around the world to discuss the natural history, disease pathophysiology, genetics and treatments for rare …
Event
On March 12-16, 2024, the National Human Genome Research Institute (NHGRI) will participate in the 2024 ACMG Annual Clinical Genetics Meeting - an annual medical and scientific conference continues to provide groundbreaking research and the latest advances in medical genetics, genomics and personalized medicine.
… No. Title P006 Evaluation and Application of a Genetic Risk Score for Uric Acid in Trans-Ancestry All of Us Cohort … Pathogenicity Classification P824 GREGoR: increasing rare disease diagnosis using emerging technologies and data …
Event
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.
… 8:00 p.m. Mendelian Phenotypes Human brains with Tay Sachs disease exhibit altered transcriptomes during fetal … of secondary genomic findings: Experiences of sickle cell disease research participants Board No. PB2224 Jameson Floyd … in two hereditary prostate cancer cohorts reveals rare risk-associated Board No. PB1123 Georgea Foley Convention …
Event
On February 16, 2023, the National Human Genome Research Institute (NHGRI) held a follow-up working group consultation after the 14th Genomic Medicine meeting, Genomic Medicine XIV: Genomic Learning Healthcare Systems.
… We see a broad range of patients from hereditary cancer risk assessment, pharmacogenomics, carrier screening,DTC …
Events
Data sharing has been a central tenet of the field of genomics since the Human Genome Project.
Event
NHGRI is hosting a workshop - Identifying Research Priorities to Accelerate genetic Diagnosis - on April 16-17, 2024.
… for determining causal variants underlying Mendelian disease. Although WES and WGS have proven to be … conditions and to increase the solve rate for rare disease. The National Human Genome Research Institute (NHGRI) …
Event
On April 10-11, the National Human Genome Research Institute (NHGRI) sponsored a workshop titled Defining a Clinical Data Ecosystem for Genomic Health in Washington, DC.
… in reproductive decision-making as well as facilitate disease risk modeling and population health genomics. Ideally, this …
Event
On November 16-17, 2023, the National Human Genome Institute will co-sponsor a workshop, Advances in the Genetic Architecture of Complex Human Traits, to take a historically grounded and forward-looking approach towards dissecting the genetic architecture of complex traits in humans.
… phenotypes” have simpler genetic architectures than disease traits or outcomes. Yet, even low-level molecular … genetic and non-genetic factors contribute to health- and disease-related trait variation and disparities. Goals To …
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.
… phenotypes 1135W Ariel Williams SGLT2 Inhibitors Attenuate Risk of APOL1-mediated Chronic Kidney Disease 5154W Evan Ying Validation and development of … Session Title: Liver, Laugh, Love: NewInsights into Liver Disease Platform Talk: Genetic Determinants of Liver Function …