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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 Program2
- Genomics-Enabled Learning Health Systems (gLHS)2
- Genetic Architecture of Complex Traits1
- Genome Technology Program1
- Impact of Genomic Variation on Function (IGVF) Consortium3
- Molecular Phenotypes of Null Alleles in Cells (MorPhiC)1
- Clinical Genome (ClinGen) Resource1
- Genomic Innovator Awards1
- 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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… in Phase II Building Bonds Melissa ParisiMD PhD Medical Genetics Branch: Prenatal Genomics and Therapy Section • New … Between NHGRI and NICHD • NICHD has four ABMGG boarded clinical geneticists • Drs. Diana Bianchi, Melissa Parisi, … • Opportunities for collaborative training activities and clinical research Examples of Existing NHGRI -NICHD …
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… . . . . . . . . . . . 19 2.3 The development of molecular genetics . . . . . . . . . . . . . . . . . . . . . . . . . . … . . . 90 5.3 The development and provision of services in clinical genetics and DNA technology . . . . . . . . . . . . … . . . . . . . . . . . . 184 9.5.3 The educational role of clinical genetics services . . . . . . . . . . . . . . . . . …
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… including data and analysis tools • Community • Clinical applications Different era • Federal budgets • … planning” vs “Investigator initiated” 4 Workshop Scope Clinical Applications of Sequencing Disease Gene and Variant … genomic variant discovery with function III. Clinical genome sequencing at scale IV. Comparative and …
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… NHGRI Chief Information Officer Joe Henke Retirement of Clinical Advisor, Division of Policy, Communications, and … the complex relationships between individual identity, genetics, and health Community Engagement Working Group I. … (OR) Michael Burgess (TX) New Chief Executive Officer, NIH Clinical Center Major General James Gilman, M.D. National …
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… (OUTCOMES OF ISHGG, 2016) : A) Publications: 1. Adeyemo WL Genetics and Genomics Etiology of Non -Syndromic Orofacial … understanding. 2017. (In preparation). 6. Balbuena HR. Genetics and Genomic Medicine in Cuba. 2017 (In preparation). 7. Belhassan K , Ouldim K, Sefiani AA. Genetics and genomic medicine in Morocco:the present hope can …
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… Ph.D. University of Washington Sara Hull, Ph.D. NIH Clinical Center and NHGRI Rasika Mathias, Ph.D. Johns Hopkins … 12 Alberto Gutierrez , Ph.D. Upcoming Changes to NIH Clinical Trials Policies Document 13 ▪ Upcoming policy … 15 New Executive Director, American Society of Human Genetics Document 16 Mona Miller, M.P.P. ASHG Position …
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… Genomics Initiative to create national framework for clinical exome sequencing • Singapore: Pilot of TGFB1 testing … PGx card identifying risk for top ten SJS- TEN drugs, clinical exomes and genomes • Israel: Push family hx data … Diagnosis Treatment Selection for Patients TGFB1 Testing Clinical Utility Courtesy P Tan, Duke -Natl U Singapore …
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… thousands of human genome sequences, both in research and clinical settings. With 28 this, researchers have been … 36 Project began and continually lead to scientific and clinical opportunities beyond our 37 expectations. 38 39 … structure and admixture to facilitate human 476 genetics studies. Technological advances have enhanced the …
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… actionable variants to patients and clinicians to improve clinical care and ultimately health outcomes; and 4) assess … to improve electronic phenotyping, provide electronic clinical decision support , and enable integration of genomic information into EMRs for clinical research and care. Background eMERGE was initiated …
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… genomic sequencing of newborns provide? What additional clinical information could be learned from genomic sequencing relevant to the clinical care of newborns ? NSIGHT Sequencing Settings Predictive Diagnostic Preventive Clinical Research Ethical, Legal, and Social Implications …