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- Developmental Genotype-Tissue Expression (dGTEx)1
- Multi-Omics for Health and Disease (Multi-Omics)1
- Ethical, Legal and Social Implications (ELSI) Research Program6
- Genomics-Enabled Learning Health Systems (gLHS)2
- Genetic Architecture of Complex Traits1
- Genome Technology Program5
- Enhancing Opportunities in Computational Genomics and Data Science1
- Human Genome Reference Program (HGRP)2
- Impact of Genomic Variation on Function (IGVF) Consortium3
- Advancing Genomic Medicine Research (AGMR)1
- Encyclopedia of DNA Elements (ENCODE) Project1
- Molecular Phenotypes of Null Alleles in Cells (MorPhiC)1
- Clinical Genome (ClinGen) Resource1
- Genomic Innovator Awards2
- Polygenic RIsk MEthods in Diverse populations (PRIMED) Consortium1
- NHGRI Genomic Data Science Analysis, Visualization and Informatics Lab-space (AnVIL)2
- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium2
News Release
In a large-scale study of people from diverse ancestries, researchers narrowed down the number of genomic variants that are strongly associated with blood lipid levels and generated a polygenic risk score to predict elevated low-density lipoprotein cholesterol levels, a major risk factor for heart disease.
… ancestral groups substantially improves identification of genomic variants associated with blood lipid levels. … In a … ancestries, researchers narrowed down the number of genomic variants that are strongly associated with blood … Health. … Sarah E. Graham et al. The power of genetic diversity in genome-wide association studies of lipids . …
News Release
NIH researchers and collaborators have found that that sickle cell trait is prevalent among diverse human populations.
… trait. People with sickle cell trait have one copy of the genomic variant that causes sickle cell disease, a genetic …
Genomics and Medicine
The NHGRI Genomic Medicine Working Group has compiled a list of interesting advances.
… The NHGRI Genomic Medicine Working Group (GMWG) compiles a list of … interesting advances and helpful educational resources in genomic medicine. To submit notable accomplishments for … GMWG published the following notable accomplishments: 2023 Genomic Medicine Year in Review 2022 Genomic Medicine Year in …
About Genomics
A introduction to basic concepts in genomics to help you understand your genome, how it works, and how it impacts your health.
… it or not, many parts of our daily lives are influenced by genomic information and technologies. Genomics now provides a …
Genomics and Medicine
A list of interesting advances and helpful educational resources in genomic medicine compiled by the NHGRI Genomic Medicine Working Group (GMWG).
… and their definitions . … Related Resources … The NHGRI Genomic Medicine Working Group (GMWG) compiles a list of … interesting advances and helpful educational resources in genomic medicine. To submit notable accomplishments for … GMWG, please email: GMWG@nih.gov . … Accomplishments in Genomic Medicine … Accomplishments in Genomic Medicine … A …
Health
Genomic medicine involves using genomic information as part of clinical care and the health outcomes and policy implications of that clinical use.
… Genomic medicine is an emerging medical discipline that involves using genomic information about an individual as part of their … Policy Issues in Genomics Genome Statute and Legislation Database … Background … How do we get there? … Genomic …
News Release
Researchers have released a new high-quality collection of reference human genome sequences that captures substantially more diversity from different human populations than what was previously available.
… of genome sequences captures significantly more human diversity. … The new pangenome reference is a collection … genome sequence for every person can lead to inequities in genomic analyses. For example, predicting a genetic disease … different from the reference genome. To understand these genomic differences, scientists create reference human genome …
For Patients and Families
The partnership engages communities on genomics, informs and shares perspectives, and impacts the focus of research.
… diverse populations to engage communities around genomic science, to inform and share perspectives about genomic research, and to impact the focus of research. Guided … communities. Providing community perspectives about genomic research and science. Identifying potential areas of …
Healthcare Provider Genomics Education Resource
Discipline-specific genomic competencies are knowledge and skills that a provider needs in order to perform specific functions in genomic healthcare. Competency-based healthcare education is an outcomes-based approach that uses competencies to organize and structure curricula and continuing education.
… Discipline-specific genomic competencies are knowledge and skills that a provider needs in order to perform specific functions in genomic healthcare. Competency-based healthcare education is … wide range of specialties. Nurses: All The Essentials of Genomic Nursing: Competencies and Outcome Indicators, 3rd …
News Release
Healthcare professionals now have access to a range of educational and clinical genomics resources on the Genetics/Genomics Competency Center website
… Messersmith, Ph.D., a health policy analyst with NHGRI's Genomic Healthcare Branch, which created the website. "Our goal now is to provide easy access to genomic resources produced by professional societies in … editorial board for quality and are mapped to published genomic competencies - the knowledge and skills a provider …