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Event

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 …

File

Report- Update on the eMERGE Network.pdf

… improve genomic discovery and clinical implementations? • Genome -wide genotyping • GWAS • Clinical implementation Pilots • … across an entire collaborative Network • Phenome -wide association studies ( PheWAS) • 3144 SNPS present in NHGRI …

File

Functional Genomics Workshop Report.pdf

… Report'From'A'Planning'Workshop' ' for'the'National'Human'Genome'Research'Institute ' “ … :# ¥ Using#genomics#assays#for#genome+wide#identification#of#functional#elements# ¥ … genome annotation for Eric Boerwinkle genotype-phenotype association studies 16 8:25 a.m. – 8:50 a.m. Hirschsprung …

File

Concept Clearance- eMERGE Phase III.pdf

… National Advisory Council for Human Genome Research May 19, 2014 Concept Clearance for RFA s … demonstrated the robustness of EMR phenotyping for genome -wide studies , defined approaches for enhancing privacy of … phenotypes and has continued GWAS and phenome -wide association studies ( PheWAS, which it helped to originate ) …

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 …

File

Functional Genomics Workshop Report Presentation.pdf

… NHGRI Planning Workshop Recap- From Genome Function To Biomedical Insight: ENCODE And Beyond … • Make resource freely available to community for use in studies of: – genetic basis of disease – gene regulation 4 … a few weeks 13 Workshop Recommendations • Continue genome-wide identification of functional elements • Add functional …