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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
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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 …
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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 …
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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 …
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… Mendelian diseases in two main ways. The first is to use genome-wide sequencing (mostly whole exome sequencing) to discover … These variants are displayed in custom tracks on UCSC Genome Browser. x All CMGs deposit to dbGaP the data …
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… Program Renewal National Advisory Council for Human Genome Research September 8, 2014 1 • “Solve” Mendelian … hanging fruit” disorders • Studying disorders exhibiting a wide range of phenotypes - Understanding the genetic … Mendelian disorders • New features − Implementing whole genome sequencing − Performing small-scale function assays • …
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… development • Need more training • Need campus-wide IT strategy • Hire CSIO • Continued support throughout … – sharing best practices in longitudinal clinical studies Collaboration - identification of collaborators at …
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… E. Plon, MD, PhD, FACMGNational Advisory Council for Human Genome Research (NACHGR)February 12th, 2018 eMERGE & Beyond … EMR and biobank be used for genomic research?•Genome-wide genotyping•GWASPhase II2011-2015•Can genomic findings be … Medicine •Develop and document best practicesfrom the studies already completed in eMERGE •Seek appropriate balance …