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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
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Event
Several NIH Institutes, Offices and Centers partnered to host a two-day virtual workshop on May 28-29, 2024, to further explore the recommendations from the National Academies of Sciences, Engineering and Medicine (NASEM) 2023 report, Using Population Descriptors in Genetics and Genomics Research: A New Framework for an Evolving Field, with regards to legacy genomic data. 
… to harmonization, interoperability and analysis, including genetic similarity;  Address challenges and identify …
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… to the standardization of next-generation sequencing genetic tes ting. The webinar had 568 registrants, of whom … issued an update to its 1995 policy statement on pediatric genetic testing , which was published in AJHG in July . • The SIC has drafted consensus statements and guidelines on ancestry testing, which the Board of Directors will review at …
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… Brian Brooks , Chief, Unit on Pediatric, Developmental & Genetic Ophthalmology, NEI 11.30 - 12.30 pm NIH Undiagnosed … Disorders Of Childhood Section, NINDS 9.15 - 10.15 am Genetic Databases (ClinVar, dbGap, GTR) Dr. Wendy Rubinstein … - 3.30 pm Growing Success Stories of Genomics in African ancestry populations: H3Africa and Beyond Dr. Charles Rotimi …
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… Projects: Genetics of Congenital Heart Disease in Africa; Genetic Basis of Acquired Heart Disease in Africa Settara … National Human Genome Research Institute, NIH Projects: Genetic Studies of Type 2 Diabetes; 2q Deletion Syndrome; … of Hypertension and Obesity in Populations of African Ancestry Profess or Barry Freedman, M.D. Wake Forest School …
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… of Human Genetics Rhonda Schonberg, National Society of Genetic Counselors INTRODUCTION OF NEW COUNCIL MEMBERS, NHGRI … curre nt whole -exome sequencing approaches identify a genetic variant thought to be strongly associated with a … – Polygenic Risk Scores from Populations of Diverse Ancestry (RFAs) – Lucia Hindorff Dr. Lucia Hindorff presented …
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… ( 615) and novel expected pathogenic ( 12) • 4300 European Ancestry • 2203 African Ancestry • Contribute to national … 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 …
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… the phenotypic implications of these variants Integrate genetic variants into EMRs for clinical care Create community … SNPid, category, frequencies • European, African, & Asian ancestry allele data +Rasmussen -Torvik LJ, Stallings SC, … (PGx) • Multi-site test of the concept that genetic sequence information can be coupled to electronic …
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… Nature. 2016;538(7624):161-164. doi: 10.1038/538161a. Ancestry Distribution of GWAS Participants 0 20 40 60 80 100 … NEIGHBOR Consortium Glaucoma GWAS Genetic Multiple Sclerosis Association (GeneMSA) … the Environment GenADA/LONG/Imaging (Genetic Alzheimer’s Disease Associations) Document 31 …
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… for adults with hypertension and self -reported African ancestry • High levels of interest in genomics research • … therapy • Reduce adverse drug side effects Diversity in ancestry 72,147 IGNITE participants Race/ethnicity N % White, …
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… a well phenotyped dataset of at least 40,000 European -ancestry (EA) samples (~20,000 cases and ~20,000 controls) … LOAD 1436 2465 WHICAP* 1019 3435 NOMAS 72 720 NCRAD 690 0 Genetic Differences 281 293 Total (3/28/14) 13713 24505 …