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- Ethical, Legal and Social Implications (ELSI) Research Program6
- Genomics-Enabled Learning Health Systems (gLHS)2
- Genetic Architecture of Complex Traits1
- Genome Technology Program5
- Human Genome Reference Program (HGRP)2
- Impact of Genomic Variation on Function (IGVF) Consortium3
- Encyclopedia of DNA Elements (ENCODE) Project1
- Molecular Phenotypes of Null Alleles in Cells (MorPhiC)1
- Genomic Innovator Awards2
- NHGRI Genomic Data Science Analysis, Visualization and Informatics Lab-space (AnVIL)3
- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium2
- Developmental Genotype-Tissue Expression (dGTEx)1
- Multi-Omics for Health and Disease (Multi-Omics)1
Fact Sheets
Genome-wide association studies involve scanning markers across the genomes of many people to find genetic variations associated with a particular disease​.
… is laying the groundwork for the era of personalized medicine, in which the current one size-fits-all approach to … Information (NCBI), a part of NIH's National Library of Medicine, is developing databases for use by the research … in collaboration with the Boston University School of Medicine. In that study, 9,000 participants in the …
Event
On Tuesday, February 6, 2024, the National Human Genome Research Institute hosted an eConsult webinar to provide an overview of three notice of funding opportunities (RFA-HG-24-001, PAR-24-106 and PAR-24-107).
… on the Impact of and Methods for Implementing Regional Genomic Medicine eConsult Services (U01 Clinical Trials Optional) PAR-24-106 : Solutions to Enable Regional Genomic Medicine eConsult Services (R43/R44 Clinical Trial …
Educational Resources
A genome-wide association study (GWAS) is an approach used in genetics research to associate specific genetic variations with particular diseases.
… DNA, Genome, Gene Expression, Gene Variation, Personalized Medicine, Gene Variant … A genome-wide association study … (abbreviated GWAS) is a research approach used to identify genomic variants that are statistically associated with a … involves surveying the genomes of many people, looking for genomic variants that occur more frequently in those with a …
News Release
The Genomics and Society: Expanding the ELSI Universe conference focused on issues arising from the ethical, legal and social implications of genomic research.
… spring from the ethical, legal and social implications of genomic research, will be held on June 5 - 7, 2017 by The Jackson Laboratory for Genomic Medicine and UConn Health in Farmington, Connecticut. The …
Event
Workshop highlighting accomplishments of eMERGE network and and identifying gaps, challenges and future opportunities in genomic medicine research.
… Medical Records and Genomics (eMERGE) network conducts genomic discovery and clinical implementation research by … workshop focused on four topics: evidence generation for genomic medicine, identification of novel and disruptive …
The Genomics Landscape
In the October 1, 2020 edition of The Genomics Landscape, Dr. Eric Green reflects on the last 30 years since the launch of the Human Genome Project.
… pioneer Maynard Olson at Washington University School of Medicine. The university was fortunate to have been awarded … describes the largest and most comprehensive catalog of genomic variants that affect gene expression produced to … trait loci (QTL), specifically associations between known genomic variants and the level of gene expression in various …
News Release
NHGRI convened geneticists, biologists, clinicians, bioinformatics specialists and more to provide expert advice on the future of its Genome Sequencing Program.
… center at Johns Hopkins University and Baylor College of Medicine. Studying Mendelian genes and variation contributes … and conditions are the epitome of personalized medicine." Genomic Medicine NHGRI supports several genomic medicine programs to explore the best ways to move …
News Release
Baylor College of Medicine. Houston and the Medical College of Wisconsin, Milwaukee will be providing DNA sequencing for the Undiagnosed Diseases Network.
… of Health (NIH) announced today that Baylor College of Medicine in Houston and the Medical College of Wisconsin in … Laboratory, is principal investigator at Baylor College of Medicine's UDN DNA Sequencing Core. The Baylor College of Medicine facility will provide sequencing of the …
News Release
Scientists are exploring the genomic and clinical profiles of people with RUNX1 familial platelet disorder.
… Scientists are exploring the genomic and clinical profiles of people with RUNX1 familial … researchers have known for more than 20 years that genomic variants in the RUNX1 gene cause the disorder, it is … RUNX1-FPD patients due to lack of training in genomic medicine . Furthermore, not everyone can access genetic …
The Genomics Landscape
In the July 2020 edition of The Genomics Landscape, NHGRI Director Eric Green recalls the White House event announcing the draft human genome sequence.
… (ACMG) recently published guidance on incorporating genomic data into electronic health records (EHRs). EHRs are … patients and doctors and for patient health overall. As genomic information about patients becomes more and more … to bubonic plague Notable accomplishments in genomic medicine COVID-19 News and Research Discussing need for …