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- Developmental Genotype-Tissue Expression (dGTEx)1
- Multi-Omics for Health and Disease (Multi-Omics)1
- Genomics-Enabled Learning Health Systems (gLHS)2
- Genome Technology Program2
- Enhancing Opportunities in Computational Genomics and Data Science1
- Impact of Genomic Variation on Function (IGVF) Consortium1
- Clinical Genome (ClinGen) Resource1
- Polygenic RIsk MEthods in Diverse populations (PRIMED) Consortium1
- NHGRI Genomic Data Science Analysis, Visualization and Informatics Lab-space (AnVIL)1
- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium1
Event
NHGRI workshop seeking scientific perspectives for relating genomic variation to human phenotype.
… p.m. Current State of the Art in Variant Discovery and Association Amit Khera Laura Bierut Jonathan Haines 12:10 - … 23, 2019 8:00 - 8:15 a.m. Introduction: Variant and Genome Function NHGRI Staff 8:15 - 9:00 a.m. Current State of … is needed to overcome barriers to performing functional studies at scale? 10:15 - 10:30 a.m Breakout Session Charge …
Event
NSIGHT explores the implications, challenges and opportunities associated with the possible use of genomic sequence information during the newborn period.
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… improve genomic discovery and clinical implementations? • Genome -wide genotyping • GWAS • Clinical implementation Pilots • … across an entire collaborative Network • Phenome -wide association studies ( PheWAS) • 3144 SNPS present in NHGRI …
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.
… how does that affect the interpretation of current studies of different kinds of traits? Are behavioral traits, … decades, however, technology has enabled population-based association studies with cohorts reaching millions of …  Arguello, Alexander Program Director, Division of Genome Sciences National Human Genome Research Institute, NIH …
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… Report'From'A'Planning'Workshop' ' for'the'National'Human'Genome'Research'Institute ' “ … :# ¥ Using#genomics#assays#for#genome+wide#identification#of#functional#elements# ¥ … genome annotation for Eric Boerwinkle genotype-phenotype association studies 16 8:25 a.m. – 8:50 a.m. Hirschsprung …
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… National Advisory Council for Human Genome Research May 19, 2014 Concept Clearance for RFA s … demonstrated the robustness of EMR phenotyping for genome -wide studies , defined approaches for enhancing privacy of … phenotypes and has continued GWAS and phenome -wide association studies ( PheWAS, which it helped to originate ) …
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… NHGRI Planning Workshop Recap- From Genome Function To Biomedical Insight: ENCODE And Beyond … • Make resource freely available to community for use in studies of: – genetic basis of disease – gene regulation 4 … a few weeks 13 Workshop Recommendations • Continue genome-wide identification of functional elements • Add functional …
Archive
… Genome-Wide Association Studies for the Rest of Us: Adding Genome-Wide Association to …
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… Concept Clearance National Advisory Council for Human Genome Research September 8, 2014 1) Should NIH fund a … Inherited Disease Research • SNP Genotyping - Human Genome Wide Association Studies - Custom Genotyping - Focused Content …
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… Di Francesco, Ajay Pillai, Adam Felsenfeld Division of Genome Sciences, NHGRI, NIH May 18, 2020 NACHGR Council … tech advances to the level where SMPS can be used for genome-wide surveys; • Improve speed, sensitivity, quantitation and …