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- Genetic Architecture of Complex Traits1
- Genome Technology Program2
- Impact of Genomic Variation on Function (IGVF) Consortium1
- NHGRI Genomic Data Science Analysis, Visualization and Informatics Lab-space (AnVIL)1
- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium1
- Developmental Genotype-Tissue Expression (dGTEx)1
- Multi-Omics for Health and Disease (Multi-Omics)1
- Ethical, Legal and Social Implications (ELSI) Research Program1
- Genomics-Enabled Learning Health Systems (gLHS)1
News Release
Diverse populations are still underrepresented in public genomic databases, according to a new study by researchers from the NIH and Harvard Medical School.
… in Genomic Databases They found significantly fewer studies of African, Latin American and Asian ancestral … participants' privacy. The researchers categorized studies by ancestral group (Europeans, Asian and … and disease areas were least represented. Of 2,817 GWA studies, researchers first analyzed 413 studies on cancer. Of …
Clinical Studies
The IDENTIFY Study is a study exploring how prenatal blood test results for the baby might also detect cancer in the mother.
… baby might also detect cancer in the mother. … Clinical Studies …
Educational Resources
Population genomics is the application of genomic technologies to understand populations of organisms.
… Population Genomics … Population genomics is the application of genomic … Effect, Genetic Drift, HapMap, Human Genome Project … Population genomics is the large-scale application of genomic … to study populations of individuals. For example, population genomics research can be used to study human …
News Release
NHGRI researchers and their international collaborators have added Williams-Beuren syndrome to the Atlas of Human Malformation Syndromes in Diverse Populations.
… added to Atlas of Human Malformation Syndromes in Diverse Population … NHGRI researchers and their international …
Explainer
Appropriate use of population descriptors in research is a critical scientific issue that is important for advancing genomic science and improving healthcare across human populations.
… The Big Picture Appropriate use of population descriptors in research is a critical scientific …  This explainer discusses and differentiates three common population descriptors — race, ethnicity and genetic ancestry … we do. Simply stated, the design of some genomic research studies has exacerbated scientific flaws due to how data are …
News Release
NHGRI researchers collaborated with physicians and medical geneticists worldwide to create the Atlas of Human Malformation Syndromes in Diverse Populations.
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 … challenges in using race, ethnicity, ancestry, and other population descriptors in genomics research. The resulting … report focuses on understanding the current use of population descriptors in genomics research, examining best …
Clinical Research
This study evaluates patients with inherited metabolic disorders and related medical complications.
… acid levels, and for genetic tests and basic research studies. In some patients, a blood test to measure growth … defects. We will define and characterize a patient population, obtain cells and urine, perform mutation analysis …
Leadership Initiatives
NHGRI aims to ensure all populations are knowledgeable about and can participate in genomics research.
… and Social Implications (ELSI) research. NHGRI research studies and collaborations focused on diseases and conditions … collection of games, role-playing exercises, case studies and multimedia resources for high school students. …