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Event

From Genome to Phenotype: Genomic Variation Identification, Association, and Function in Human Health and Disease

NHGRI workshop seeking scientific perspectives for relating genomic variation to human phenotype.

… p.m. Current State of the Art in Variant Discovery and Association Amit Khera Laura Bierut Jonathan Haines 12:10 - … 23, 2019 8:00 - 8:15 a.m. Introduction: Variant and Genome Function NHGRI Staff 8:15 - 9:00 a.m. Current State of … is needed to overcome barriers to performing functional studies at scale? 10:15 - 10:30 a.m Breakout Session Charge …

Event

NSIGHT Public Webinar

NSIGHT explores the implications, challenges and opportunities associated with the possible use of genomic sequence information during the newborn period.

News Release

NIH researchers develop guidelines for reporting polygenic risk scores

Research studies are now using polygenic risk scores to determine a person’s inherited risk for certain diseases, but there are inconsistencies in how these scores are calculated. NHGRI has published guidelines in Nature for how these scores should be reported.

… new approach will be used as a framework for publishing studies on polygenic risk scores. … Scientists and healthcare … the research teams, funded primarily by the National Human Genome Research Institute (NHGRI), have published a 22-item … studies. This framework — created by NHGRI’s Clinical Genome Resource's (ClinGen) Complex Disease Working Group …

Event

2022 ASHG Annual Meeting

On October 25-29, 2022, the National Human Genome Research Institute (NHGRI) will participate in the ASHG Annual Meeting - the world's largest human genetics and genomics meeting and exposition.

… Hall 3:00 p.m. — 4:45 p.m Complex Traits Sequencing-based genome-wide association study of triglycerides in East Africans Board No. …

Event

NHGRI at ASHG 2023 Annual Meeting

On November 1-5, 2023, the National Human Genome Research Institute (NHGRI) will participate in the ASHG Annual Meeting - the world's largest human genetics and genomics meeting and exposition. The annual meeting provides a forum for the presentation and discussion of cutting-edge science in all areas of human genetics.

… Pediatric Genetics Education. PB2385 Edmond Wonkam Tingang Genome-Wide Sequencing Implicates Monogenic Disruption of Vascular … - 4:15 p.m. Faith Pangilinan Performance of a genome-wide association study of neural tube defects allows an unbiased …

Event

Advances in the Genetic Architecture of Complex Human Traits

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.

… how does that affect the interpretation of current studies of different kinds of traits? Are behavioral traits, … decades, however, technology has enabled population-based association studies with cohorts reaching millions of … Arguello, Alexander Program Director, Division of Genome Sciences National Human Genome Research Institute, NIH …

News Release

NIH grants seek best ways to combine genomic information and EHRs

NIH will support research that incorporates DNA sequence information into electronic medical records.

… into EMRs The grants, administered by the National Human Genome Research Institute (NHGRI), represent the third phase … patient electronic health records, and along with genome-wide testing, explore the roles of variants in a number of … conditions and disorders. In addition, their wide-ranging studies include evaluating the cost-effectiveness of genetic …