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- Developmental Genotype-Tissue Expression (dGTEx)1
- Ethical, Legal and Social Implications (ELSI) Research Program2
- Genetic Architecture of Complex Traits1
- Genome Technology Program1
- Impact of Genomic Variation on Function (IGVF) Consortium1
- Clinical Genome (ClinGen) Resource1
- Polygenic RIsk MEthods in Diverse populations (PRIMED) Consortium1
- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium2
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… ▪ Report: NAM Report on Evidence Framework for Genetic Testing Wendy Chung ▪ Report: Genomic Medicine …
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… of Human Genetics Rhonda Schonberg, National Society of Genetic Counselors INTRODUCTION OF NEW COUNCIL MEMBERS, NHGRI …
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… healthcare professionals on available resources for rare genetic diseases. • Develop resources to address the … speech, OT, psychology etc.) • Difficulties accessing genetic testing/services • Uncertainty about available peer …
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… and community acceptance of a streamlined approach to genetic counseling that was needed to transfer the … during antiplatelet treatment guided by pre -emptive genetic testing would require ~2,650 partic ipants in the … of 25% in at-risk ind ividuals . Alternatively, a study of genetic testing to increas e the proportion of patients and …
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… (Related Tech Dev) 5 Workshop Topics Major topics: I.Genetic architecture of health and disease at scale: - … 7 Scientific Opportunities • Discover genetic variants underlying human disease and healthy traits … is a powerful resource for the scientific community. 9 I. Genetic Architecture of Health and Disease A. Define …
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… of ‘Cures’ agenda  Proposed funding increases for NIH Genetic Research Privacy Protection Act  Senate sponsors: …
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… ABMGG Laboratory Genetics and Genomics and other fellows, genetic counselors, nurses, and other groups in genomics and …
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… 100 publications 3. Revealed the extent of pleiotropy and genetic heterogeneity underlying Mendelian disorders 4. … exhibiting a wide range of phenotypes - Understanding the genetic characteristics of Mendelian disorders - Learning …
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… of Human Genetics Rhonda Schonberg, National Society of Genetic Counselors INTRODUCTION OF NEW NACHGR MEMBERS, NHGRI … analysis of ELSI trainee career paths, the use of genetic genealogy in forensic investigations , and genome …
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… RCHSD and CMH Study Design • NICU infants • Suggestive of genetic disease • Randomized to rapid genome seq • Cross … as: change in medication, palliative care, or reproductive genetic counselling Clinical Care of Newborns Willig et al. …