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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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… in the CSER Consortium. Genet Med. 2013. 4. Bernhardt, Genetic counselors and the future of clinical genomics. … for genomic testing. Genet Med . 2014. 9. Facio et al., A Genetic Counselor’s Guide to Using Next - Generation … paraplegia. J Neurol. 2014. 11. Green et al., GINA, genetic discrimination and genomic medicine. NEJM 2015. 12. …
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… Comments and Questions Do R25s apply to people like genetic counselors or others without a PhD or MD? May be able … of which is distributed between research priority areas of genetic and genomic research, genetic and genomic medicine, and legal policy and societal …
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… to direct therapy Develop processes for performing genetic testing and using results in care •Identify persons at increased risk of disease based on their genetic variants • Assess impact on health outcomes and care … in clinical use • Develop improved coding system for genetic testing to augment or replace CPT codes, based on …
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… Functional information is needed to interpret the role of genetic variation in human disease, and to apply genomics in … freely available to community for use in studies of: – genetic basis of disease – gene regulation 4 ENCODE Timeline … assays of function to interpret disease -associated genetic v ariation • Topic #3: Using genomic assays of …
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… !to!inform!regulatory!and!policy!decisionMmaking!related!to!genetic!medicine!Interpreting)Variants)/)Actionability)¥ … conditions!known!or!suspected!to!be!associated!with!a!given!genetic!variant,!to!potentially!improve!diagnosis!¥ …
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… and address the ethical, legal, and social implications of genetic and genomic research • 5% NHGRI extramural budget set … research Current Research Priority Areas • Issues in genetic and genomics research • Issues in genetic and genomic medicine • Broader legal, policy and …
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… 8, 2014 1 How can we “read” the human genome sequence? • Genetic code – Moderately good at identifying protein- coding … expression on a spatial, temporal and quantitative level – genetic basis of disease 4 ENCODE Data Types Modified from …
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… vision of creating a series of similar modules across the genetic/genomics domains often facing primary care …