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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
NIH and Inova Health are launching The Genomic Ascertainment Cohort, a pilot project that will examine gene and gene variant influence on phenotypes.
… of 10,000 human genomes and exomes, the 1-2 percent of the genome that contains protein-coding genes. Once the database … and Metabolic Genetics Branch at NIH's National Human Genome Research Institute (NHGRI). "Our goal is to determine … additional 1,000 patients will be recruited to have genome sequencing performed. Because knowledge of how genomic …
For Health Professionals
The Inter-Society Coordinating Committee for Practitioner Education in Genomics (ISCC-PEG) aims to improve genomic literacy of healthcare providers and enhance the effective practice of genomics-informed healthcare by facilitating interactions among the key stakeholders in genomics education.
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.
… how a person responds to medications, including their genome, environment, lifestyle, and medical history, as well …
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.
… and strategies to consider. … Funding: The National Human Genome Research Institute provided funding for development of …
Health
Information about genomics competencies, patient care, and related partnership and outreach activities at NHGRI.
… partnership and outreach activities at the National Human Genome Research Institute. … Information about genomics …
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
… Pediatric Genetics Education. PB2385 Edmond Wonkam Tingang Genome-Wide Sequencing Implicates Monogenic Disruption of Vascular … 2023, 2:15 - 4:15 p.m. Faith Pangilinan Performance of a genome-wide association study of neural tube defects allows …
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.
… by researchers at or associated with the National Human Genome Research Institute (NHGRI). … This list of genetic, … that carry genes). As we unlock the secrets of the human genome (the complete set of human genes), we are learning … by researchers at or associated with the National Human Genome Research Institute.​​ ​ … Genetic Disorder, Genetic …
MINC
There are many resources to help you learn more about integrating genomics into practice.
For Patients and Families
FAQs about genetic disorders, the impact of genomics on your health, and the emerging science of pharmacogenomics.
… Experts at the National Human Genome Research Institute (NHGRI) have assembled answers to …