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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
NHGRI sponsored its 12th Genomic Medicine meeting, Genomic Medicine XII: Genomics and Risk Prediction on May 6-7, 2019.
… Medicine meeting, Genomic Medicine XII: Genomics and Risk Prediction . The objectives of the meeting were: Review the state of science of polygenic risk scores and how it can be improved Examine other … integrated with genetic variant information in predicting risk Identify research directions in development and …
Event
On December 12-13, 2024, NHGRI and NIAID co-sponsored the 16th Genomic Medicine meeting, Genomic Medicine XVI: Host Genomics and Infectious Disease, in Bethesda MD.
… Genomic Medicine meeting, Host Genomics and Infectious Disease: Opportunities for Implementing Genomic Medicine , in … Ave … Genomic Medicine XVI: Host Genomics and Infectious Disease … On December 12-13, 2024, NHGRI and NIAID … Genomic Medicine XVI: Host Genomics and Infectious Disease, in Bethesda MD. … On December 12-13, 2024, NHGRI and …
Event
The 2018 meeting focused on KOMP's collaborations with various human disease gene discovery programs.
… on KOMP's collaborations with various human disease gene discovery programs. The day featured talks and … Research Program (Kids First) and the Undiagnosed Disease Network (UDN). … Rockville Hilton Hotel … MD … 1750 … focused on KOMP's collaborations with various human disease gene discovery programs. … The 2018 meeting focused …
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 …
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… Genome Research Institute Acute Infection in Mitochondrial Disease Why are we doing this study? Coronavirus 2019 … implications of COVID-19 in individuals with mitochondrial disease or their family members are unknown. However, … with mitochondrial disease may be particularly at-risk for decline associated with infection. This study aims …
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… Alzheimer’s Disease Introduction 1 • Aging population. • AD is common … Pedigree of FAD -RO1. Major gene: APOE locus Major risk -, age -at -onset - determinant N either necessary nor … protein processing, inflammation and lipids Alzheimer’s Disease Introduction 4 • Aging population. • AD is common …
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… Genome Research September 8, 2014 Workshop “Wish List” Disease Gene and Variant Discovery, Across A rchitectures, … of Biology of Science of Effectiveness of Genomes Genomes Disease Medicine Healthcare Gold Genomes Methods Produce Gold … of people • Understanding the genomic variants influencing risk (or protection from ) these will provide insight into …
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… Genome Research Institute Acute Infection in Mitochondrial Disease Why are we doing this study? Coronavirus 2019 … implications of COVID-19 in individuals with mitochondrial disease or their family members are unknown. However, … with mitochondrial disease may be particularly at-risk for decline associated with infection. This study aims …