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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 workshop seeking scientific perspectives for relating genomic variation to human phenotype.
… a.m. NHGRI's Current Approach to "Variant to Function to Disease" NHGRI Staff 11:25 - 12:10 p.m. Current State of the … if any, is needed to study Mendelian and common disease, and what should NHGRI do in this area? Why? … of Variation Associated with Human Health and Disease Panel: Barbara Stranger Anshul Kundaje David Valle …
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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 …
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… all organ systems, all peri- ods of life, and many disease entities. Medical genomics is the study of the genome … avail- able information to make a diagnosis or provide a risk assessment • Genetic counseling (as described below) for … a PhD Medical Geneticist may perform complex risk assessments and paternity and forensic computations. DELIVERY …
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… and certain metabolites in order to detect heritable disease- related genotypes, mutations, phenotypes or … for clinical purposes. Such purposes include predicting risk of disease, identifying carriers and establishing prenatal and …
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… processes often include educati on of patients about the risk s and benefits of genetic/genomic tests, including how … genomic medicine as a field; projects studying a specific disease or disease area would have to yield generalizable findings. …
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… molecular ly targeted therapy, or complex disease manage ment. The 6 originally funded groups have … at 7 IGNITE sites and affiliat es. These data showed that risk of major adverse cardiovascular events more than doubles … critically ill newborns . Proposed trials should include assessments of approaches for real world applications and …
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… Families SHARE Sharing Health Assessment and Risk Evaluation Risk checklist and calculator For Type 2 diabetes Heart Disease First degree relatives First degree relatives Second … Have any of your relatives been diagnosed with heart disease? If you checked more than 1relative you are at …