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- Developmental Genotype-Tissue Expression (dGTEx)1
- Ethical, Legal and Social Implications (ELSI) Research Program2
- Genetic Architecture of Complex Traits1
- Genome Technology Program1
- Impact of Genomic Variation on Function (IGVF) Consortium1
- Clinical Genome (ClinGen) Resource1
- Polygenic RIsk MEthods in Diverse populations (PRIMED) Consortium1
- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium2
Research at NHGRI
The Medical Genetics Branch studies inherited disorders of metabolism and of human development.
… new diagnostic tests and treatments for patients with rare genetic disorders in the NIH Clinical Center. To achieve …
Research at NHGRI
The Genetic Disease Research Branch studies how genetic changes affect the structure and function of gene products leading to human disease.
… The Genetic Disease Research Branch studies the mechanisms by which genetic changes affect the structure and function of gene … identify and better understand pathways involved in human genetic diseases and normal development. Model systems, …
Research at NHGRI
The Genetics and Molecular Biology Branch uses genomic technologies to study the human genome and other organisms and disease mechanisms.
… and Molecular Biology Branch uses state-of-the-art genetic and genomic technologies to study the genomes of … that research findings and opportunities derived from genetic and genomic technologies may be translated into … and clinical research, bringing the latest genomic and genetic technologies to the study of human disease. Our …
Event
The Journeys in Human Genetics and Genomics Colloquium is part of a training partnership between ASHG and NHGRI to showcase the depth and breadth of exciting scientific, clinical, and societal elements of human genetics and genomics at an introductory level as well as to illustrate the myriad associated career opportunities.
Research at NHGRI
The NHGRI Cancer Genetics and Comparative Genomics Branch identifies and study genes that contribute to cancer susceptibility and progression.
… gastric cancers. They also study the relationship between genetic variation and cancer progression and pursue the … primary focus of CGCGB investigators is to identify the genetic contribution to the processes of cancer … genomes. Specifically, the program: Focuses on finding genetic relationships between regions of the human genome and …
Event
On March 12-16, 2024, the National Human Genome Research Institute (NHGRI) will participate in the 2024 ACMG Annual Clinical Genetics Meeting - an annual medical and scientific conference continues to provide groundbreaking research and the latest advances in medical genetics, genomics and personalized medicine.
…  No. Title P006 Evaluation and Application of a Genetic Risk Score for Uric Acid in Trans-Ancestry All of Us Cohort P058 Design of the Prospective …
The Genomics Landscape
In the September 2019 edition of The Genomics Landscape, NHGRI Director Eric Green details the American Society of Human Genetics' (ASHG) new strategic plan, which aims to get people everywhere to realize the benefits of genomics and genetics research.
… an informed public. Establishing how best to advance genetic and genomic literacy is a major challenge. No one … summary data. In addition, All of Us recently funded a genetic counseling resource to help participants understand … Research Program Recap Progress and Next Steps NIH Funds Genetic Counseling Resource Ahead of Million-Person …
The Genomics Landscape
NHGRI medical genetics training programs provide an array of education opportunities
… in which NHGRI is centrally involved, such as the Genetic Counseling Training Program that is collaboratively … physicians to diagnose, manage, and counsel patients with genetic disorders. The program exposes its trainees to genetic conditions that range from common to ultra-rare, …
News Release
NIH leaders are calling for the scientific community to develop a consensus on the appropriate use of race and ethnicity in biomedical research.
… as social and cultural identity, family background and ancestry derived from genomic analyses," said Dr. Green. … use of race and ethnicity in biomedical research. ​ … genetic variation, DNA sequencing, health disparities, race and ethnicity, ancestry … NIH leaders are calling for the scientific …
The Genomics Landscape
In the March 2019 edition of The Genomics Landscape, NHGRI Director Eric Green details ClinGen, the first FDA-recognized Public Human Genetic Variant Database.
… Genome (ClinGen) Resource  under their recent Public Human Genetic Variant Database guidance. This program is part of an FDA effort  to provide genetic test developers access to consistent, … predictors into curation approaches and aim to ensure that ancestry and diversity are adequately addressed in the …