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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
Event
On November 16-17, 2023, the National Human Genome Institute will co-sponsor a workshop, Advances in the Genetic Architecture of Complex Human Traits, to take a historically grounded and forward-looking approach towards dissecting the genetic architecture of complex traits in humans.
… and dynamic processes in general that may mediate genetic effects on traits?  Advances in sequencing … or theoretically, for scalable approaches to map genetic effects on higher-order compositions of cells: … University of Pennsylvania 9:35 a.m.  Portability, Ancestry, and Context for Polygenic Scoring in Humans Bogdan …
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 …
Event
NHGRI hosted a webinar to provide an overview of the Investigator-Initiated Research on Genetic Counseling Processes and Practices Request for Applications (RFA-HG-20-048 and RFA-HG-20-049).
… an overview of the Investigator-Initiated Research on Genetic Counseling Processes and Practices Request for … … Online … Webinar for Investigator-Initiated Research on Genetic Counseling Processes and Practices Request for … an overview of the Investigator-Initiated Research on Genetic Counseling Processes and Practices Request for …
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 …