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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
NSIGHT explores the implications, challenges and opportunities associated with the possible use of genomic sequence information during the newborn period.
Event
The Journeys in Human Genetics and Genomics Colloquium is part of a training partnership between ASHG and NHGRI to showcase the depth and breadth of exciting scientific, clinical, and societal elements of human genetics and genomics at an introductory level as well as to illustrate the myriad associated career opportunities.
… Society of Human Genetics (ASHG) and the National Human Genome Research Institute (NHGRI). The goal of the colloquium …
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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 • …