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- Developmental Genotype-Tissue Expression (dGTEx)1
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Event
NHGRI is hosting a workshop - Identifying Research Priorities to Accelerate genetic Diagnosis - on April 16-17, 2024.
… - Break 4:10 PM – Session 5: Computational Tools to Enable Genetic Diagnoses Moderator: Chris Wellington, NHGRI 4:10 PM … much work remains to advance our understanding of the genetic cause of Mendelian conditions and to increase the … Drive … Identifying Research Priorities to Accelerate Genetic Diagnosis … NHGRI is hosting a workshop - Identifying …
Research Funding
The GREGoR (formerly the Mendelian Genomics Research Consortium) is aimed at significantly increasing the proportion of Mendelian disorders with an identified genetic cause through enhanced data sharing, collaboration and an increased focus on the application of new technologies, sequencing strategies and analytical approaches.
… website . … Identifying Research Priorities to Accelerate Genetic Diagnosis April 16-17, 2024 GREGOR Pre-Application … the proportion of Mendelian disorders with an identified genetic cause through enhanced data sharing, collaboration … the proportion of Mendelian disorders with an identified genetic cause through enhanced data sharing, collaboration …
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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, …