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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
Researchers have identified genomic mutations for Carey-Fineman-Ziter syndrome, a congenital myopathy with facial weakness, a cleft palate and scoliosis.
… July 6, 2017, in Nature Communications . "Advances in genomics technology and the power of team science have … a physician scientist and staff clinician in the Medical Genomics and Metabolic Genetics Branch at the National Human …
News Release
NIH and Inova Health are launching The Genomic Ascertainment Cohort, a pilot project that will examine gene and gene variant influence on phenotypes.
… M.D., TGAC co-organizer and chief of the Medical Genomics and Metabolic Genetics Branch at NIH's National …
MINC
As genomic competencies have been delineated for all nurses, this presented an opportunity to provide support to nurse leaders to become aware of, plan for, and begin to incorporate genomics into practice.
… to become aware of, plan for, and begin to incorporate genomics into practice. … The primary aim of this Method for … to develop, implement, and evaluate a year-long genomic education intervention that trained, supported, and … and accountable care that includes new competencies. This toolkit has been developed based on innovative MINC Champion …
MINC
There are many resources to help you learn more about integrating genomics into practice.
… many resources to help you learn more about integrating genomics into practice. … This toolkit provides links to resources  used by others like you … new knowledge about human genetics into practice, education, and research  National Society of Genetic …
Fact Sheet
Pharmacogenomics is a growing area of genomic medicine that uses a patient's genomic information to help healthcare providers select the medications and dosages that are predicted to work best in each patient.
… combines two scientific areas, pharmacology and genomics , to study how a person’s DNA affects their response … are taking a medication that is known to be affected by genomics who want to be informed about how genomics may … resources, please visit our Healthcare Provider Genomics Education Resources . … Ethical, legal and social …
Outreach
National DNA Day commemorates the successful completion of the Human Genome Project in 2003 and the discovery of DNA's double helix in 1953.
… teachers and the public can learn more about genetics and genomics. The day commemorates the completion of the Human … the mission statement, in collaboration with the NHGRI’s Education and Community Involvement Branch: Jasmin Alim, …
Health
Information about genomics competencies, patient care, and related partnership and outreach activities at NHGRI.
… for health professionals to have a firm understanding of genomics to better serve their patients. These resources provide reliable, up-to-date information about genomics competencies, patient care, and our partnership and … Content … For Health Professionals … Information about genomics competencies, patient care, and partnership and …
Event
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.Â
… Rebekah Waikel Generative methods for Pediatric Genetics Education. PB2385 Edmond Wonkam Tingang Genome-Wide … 1, 2023, 12:00 - 3:00 p.m Charles Rotimi Accelerating Genomics in Africa: Moving Forward Together Convention Center … Annual Meeting - the world's largest human genetics and genomics meeting and exposition.  The annual meeting provides …
For Patients and Families
FAQs about genetic disorders, the impact of genomics on your health, and the emerging science of pharmacogenomics.
… asked questions about genetic disorders, the impact of genomics on your health, and the emerging science of … Health FAQs … FAQs about genetic disorders, the impact of genomics on your health, and the emerging science of … Rare Disease … FAQs about genetic disorders, the impact of genomics on your health, and the emerging science of …
For Patients and Families
A list of genetic, orphan and rare diseases under investigation by researchers at or associated with the National Human Genome Research Institute.