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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
On June 17-18, 2021, NHGRI hosts a workshop, Multi-Omics in Health and Disease: Current Applications, Challenges and Future Directions.
… the Stage - Application of multi-omics to study health and disease Moderator: Judy Cho, Icahn School of Medicine at Mt. … 1: Multi-omics Integration to Understand Health and Disease Nancy Cox, Vanderbilt University 2:15 - 2:45 p.m. … NHGRI 1:10 - 1:25 p.m. Presentation 1: Using Polygenic Risk Scores Combined With Multi-omics Data to Provide …
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 …
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
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 …
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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 …
Event
NHGRI and NICHD program staff will hold a pre-application interactive Q&A webinar for the Developmental Genotype-Tissue Expression Project funding opportunities and answer questions from prospective applicants.
… collect clinical data through Uniform DRAI (Uniform Donor Risk Assessment Interview) with the family. Is this good …