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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​.
… information to develop better strategies to detect, treat and prevent the disease. Such studies are particularly useful … diseases, such as asthma, cancer, diabetes, heart disease and mental illnesses. … With the completion of the Human … is laying the groundwork for the era of personalized medicine, in which the current one size-fits-all approach to …
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).
… questions during the webinar, a summary of questions and answers have been posted. Prospective applicants with … Webinar are encouraged to view the summary of questions and answers after the webinar. … Additional Information … On … Impact of and Methods for Implementing Regional Genomic Medicine eConsult Services (U01 Clinical Trials Optional) …
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 …
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.
… Communications and Public Liaison Branch … From prenatal genetic screening … testing of women with family histories of breast cancer, genomics is rapidly becoming a fixture in our lives. Genomics … 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.
… (NHGRI) hosted a program review workshop entitled eMERGE and Beyond: The Future of EHR and Genomics on October 30th, 2017.  The Electronic Medical … 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.
… then a postdoctoral research fellow in the laboratory of genomics pioneer Maynard Olson at Washington University School of Medicine. The university was fortunate to have been awarded … with the Human Genome Project successfully completed and genomics maturing into a well-respected discipline. I am …
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 Milwaukee will be … includes seven clinical sites at academic medical centers and at the NIH, as well as a coordinating center operated by …
News Release
NHGRI convened geneticists, biologists, clinicians, bioinformatics specialists and more to provide expert advice on the future of its Genome Sequencing Program.
… biologists, clinicians, bioinformatics specialists and others to provide expert advice on the future of its … program, the GSP now includes the Centers for Mendelian Genomics program, the Clinical Sequencing Exploratory … center at Johns Hopkins University and Baylor College of Medicine. Studying Mendelian genes and variation contributes …
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 platelet … investigator within the Translational and Functional Genomics Branch at the National Human Genome Research … 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.
… is likely the case for many of your organizations, NHGRI and NIH are starting to bring some of our staff back to the … past few months, NHGRI staff will continue pursuing our genomics-driven mission, whether working remotely from home … to bubonic plague Notable accomplishments in genomic medicine COVID-19 News and Research Discussing need for …