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- Developmental Genotype-Tissue Expression (dGTEx)1
- Multi-Omics for Health and Disease (Multi-Omics)1
- Ethical, Legal and Social Implications (ELSI) Research Program6
- Genomics-Enabled Learning Health Systems (gLHS)2
- Genetic Architecture of Complex Traits1
- Genome Technology Program5
- Enhancing Opportunities in Computational Genomics and Data Science1
- Human Genome Reference Program (HGRP)2
- Impact of Genomic Variation on Function (IGVF) Consortium3
- Advancing Genomic Medicine Research (AGMR)1
- Encyclopedia of DNA Elements (ENCODE) Project1
- Molecular Phenotypes of Null Alleles in Cells (MorPhiC)1
- Clinical Genome (ClinGen) Resource1
- Genomic Innovator Awards2
- Polygenic RIsk MEthods in Diverse populations (PRIMED) Consortium1
- NHGRI Genomic Data Science Analysis, Visualization and Informatics Lab-space (AnVIL)2
- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium2
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… normative, & conceptual ELSI research –targeted to the genomic research community • Announcements/“explainers ” in … about Division activities in light of changes in genomics, genomic medicine, and the policy landscape, aiming to …
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… and interpretation, and ELSI issues . These included: diversity/inclusion, multi -disciplinary training, modular … CLEARANCE – Co nsortium for Understanding the Impact of Genomic Variation on Genome Function (RFA) – Mike Pazin and … concept for the Consortium for Understanding the Impact of Genomic Variation on Genome Function. The concept was …
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… o The trans -NIH Research Supplements to Promote Diversity in Health -Related Research and to Promote Re … such individuals to conduct research in the area of genomic s cience, genomic medicine and ELSI research. A uthorization is given …
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… o The trans -NIH Research Supplements to Pro mote Diversity in Health -Related Research and to Promote Re … such individuals to conduct research in the area of genomic science, genomic medicine and ELSI research . Authorization is given …
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… presentation can be found at: [link ] CONCEPT CLEARANCE – Diversity Action Plan PAR Renewa l – Dr. Tina Gatlin Dr. … Strategic Planning Workshop: From Genome to Phenotype – Genomic Variation Identification, Association, and Function … testing companies will soon exceed the amount of genomic data produced by NIH -funded research. As such, …
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… NHGRI -NICHD Collaborations Newborn Sequencing I n Genomic medicine and public H eal Th (NSIGHT ) program From … Collaborations • Goal is to provide well -curated medical, genomic and clinical data from a large number of children … challenges and opportunities associated with the use of genomic sequencing in the newborn period • Compare with known …
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… Rockville, September 29 - 30 2016 Goals • Prioritize genomic research topics relevant to the NHGRI extramural … phenotype 3. Tools, technologies, and policies to ensure genomic data sharing 4. Statistical/computational tools to … of ‘gold standards’ 11. Improvements needed to integrate genomic medicine into Clinical Decision Systems 12. …
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… at scale for solving Mendelian disorders 2. Discovered the genomic basis of (“solved”) over 165 Mendelian disorders; … phenotype driven, or combination with non- sequencing genomic methods (through collaborations), etc. − Tools for … for sequence data production − Data analyses of difficult genomic regions, such as repeat expansions, CNVs, fusions, …
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… Genome Research Institute (2020 ) Mission : To improve genomic literacy of healthcare providers and enhance the effective practice of clinical genomic medicine by facilitat ing interactions among key … are strongly encouraged to allow for sharing of effort and diversity of opinion. Co -chairs may be the individual(s) who …