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- 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
- Ethical, Legal and Social Implications (ELSI) Research Program6
- Genomics-Enabled Learning Health Systems (gLHS)1
About Genomics
Appropriate use of population descriptors in scientific research is critical for the advancement of genomic science and human health for all.Â
… Report: Using Population Descriptors in Genetics and Genomics Research  In response to a request from the … of expert volunteers to conduct a study to review and assess existing methodologies, benefits, and challenges … in genetics and genomics research … Genetic and genomic information has become far more accessible, and …
News Release
NHGRI researchers and their international collaborators have added Williams-Beuren syndrome to the Atlas of Human Malformation Syndromes in Diverse Populations.
… with the National Human Genome Research Institute and their international collaborators have added … to the Atlas of Human Malformation Syndromes in Diverse Populations. … By adding highly accurate images and clinical … will better recognize and diagnose the rare disease in non-Europeans and deliver critical, early interventions and …
Leadership Initiatives
NHGRI aims to ensure all populations are knowledgeable about and can participate in genomics research.
… Genome Research Institute (NHGRI) wants to ensure that all populations are knowledgeable about the science underpinning the Human Genome Project and genomics research, and have the opportunity to … is important for everyone to be informed about continuing genomic research and to understand the ethical, legal and …
Event
On November 8-9, 2023, NHGRI sponsored its 15th Genomic Medicine meeting, Genomic Medicine XV: Genomics and Population Screening, in Bethesda MD.
… Human Genome Research Institute (NHGRI) sponsored its 15th Genomic Medicine meeting, Genomic Medicine XV: Genomics and Population Screening, in Bethesda MD. This meeting … as appropriate Variants and conditions to be screened for Populations to screen, including appropriate ages and other …
Event
On September 16, 2015, the National Human Genome Research Institute (NHGRI) convened a roundtable to discuss the current status of the engagement and inclusion of underrepresented populations in genomics research.
… roundtable to discuss the current status of the engagement and inclusion of underrepresented populations in genomics research.  … NIH Intramural … Lane … Inclusion and Engagement of Underrepresented Populations in Genomics … On September 16, 2015, the National …
Event
On October 10, 2024, NHGRI will host a pre-application webinar for the Population Genomic Screening in Primary Care NOFOs. The purpose of these NOFOs is to implement and evaluate a pilot program of population genomic screening for common, actionable genomic conditions in a primary care setting.
… Welcome Overview of the Population Genomic Screening Discussion … There will be a question-and-answer session during the webinar, however, attendees are … in Primary Care NOFOs: RFA-HG-24-021 , RFA-HG-24-022 , and RFA-HG-24-023 . The purpose of these NOFOs is to …
Research Funding
The PAGE Consortium investigates ancestrally diverse populations to gain a better understanding of how genetic factors influence susceptibility to disease.
… the need to further explore initial findings in non-European populations. The Population Architecture using Genomics and …
News Release
NHGRI researchers collaborated with physicians and medical geneticists worldwide to create the Atlas of Human Malformation Syndromes in Diverse Populations.
… Institutes of Health, have collaborated with physicians and medical geneticists around the world to create the Atlas of Human Malformation Syndromes in Diverse Populations. Health care providers can use the new atlas to … diagnostic atlas featured photos of patients with northern European ancestry, which often does not represent the …
The Genomics Landscape
In May 4, 2023 edition of The Genomics Landscape, NHGRI Director, Eric Green, M.D., Ph.D., details a report released by the National Academies of Science, Engineering, and Medicine, that provided a series of recommendations for using population descriptors in future genetics and genomics studies.
… anniversary of the completion of the Human Genome Project, and the 20th anniversary of National DNA Day. To commemorate … scientific progress, the terms used to describe human populations have remained stuck in the past. Genetics and … maintained through a collaborative project between the European Molecular Biology Laboratory-European Bioinformatics …
News Release
Researchers identified regions of the genome associated with skin color variation in some African populations, furthering skin disease and cancer research.
… are associated with skin color variation in some African populations, opening new avenues for research on skin diseases and cancer in all populations. … These findings may help … hundred years have focused on analyzing differences among European populations. This study of ethnically diverse …