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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
Policy Issues
The GINA is an important U.S. civil rights law that protects individuals from discrimination based on their genetic information.
… The Genetic Information Nondiscrimination Act, commonly known as … protects individuals from discrimination based on their genetic information. It was first introduced into the U.S. Congress in the 1990s at a time when genetic testing and genetics research was taking off at …
Timeline
A timeline highlighting key moments in the development of eugenics, with a focus on the American eugenics movement.
About Genomics
An interactive timeline listing key moments from the history of the project.
… Project gave us the ability to read nature's complete genetic blueprint for a human. This interactive timeline … Huntingdon's disease, neurofibromatosis and other genetic disorders. More Francis Collins' Statement in … ahead of schedule. The goals include creating detailed genetic and physical maps, developing efficient strategies …
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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 …