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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
Research points to the effects of nutrients in how DNA mutates in the mitochondria.
… are less certain. In the future, we need bigger human studies using more updated techniques.” Human studies will also always be more challenging. Unlike … to have a specific mutation to cause a disease.” Future studies are needed to look more directly at the impact that …
Research at NHGRI
The Metabolic, Cardiovascular and Inflammatory Disease Genomics Branch studies the genomic and social determinants of complex diseases.
… and Inflammatory Disease Genomics Branch (MCIDGB) studies the genomic and social determinants of complex … clinical observation, genetic analysis and functional studies. MCIDGB investigators seek to understand the … drug response. Researchers pursue both individual- and population-level approaches. The center's scientists develop …
News Release
NHGRI researchers and their collaborators, have successfully used facial analysis software to diagnose Noonan syndrome in Africans, Asians and Latin Americans.
… affecting between 1 in 1,000 to 1 in 2,500 children -- few studies have been conducted in non-Europeans according to … that Noonan syndrome was similar across different population groups. Only two clinical elements differed among …
Fact Sheet
Several regulations and policies stipulate the information that must be given to research participants prior to their enrolling in a study.
… intervention or interaction with the individual, and uses, studies, or analyzes the information or biospecimens; or Obtains, uses, studies, analyzes, or generates identifiable private …
Research at NHGRI
CRGGH develops a comprehensive staff and training program that uses genomic approaches to study human health and to reduce/eliminate health disparities.
… before immigrating to the United States for further studies. Dr. Rotimi started his education in the United … ( H3Africa ), an international partnership to support population-based genetic studies on that continent. For … human populations." Thus, a comprehensive understanding of population and ethnic differences requires a robust …
News Release
Researchers have released a new high-quality collection of reference human genome sequences that captures substantially more diversity from different human populations than what was previously available.
… that reflects the remarkable diversity of the human population. This will help make the reference useful for all …
Staff
Dr. Neil Hanchard is a clinical investigator within the Center for Precision Health Research (CPHR) and head of the Childhood Complex Disease Genomics Section within the CPHR.
… to 20% of multiply-transfused SCD individuals, with some studies reporting rates twice as high. In the most severe … of Prof. Dominic Kwiatkowski, where he worked on population differentiation, genome variation, and natural … medical students. His research has provided insight to the population genetics of the mutation that causes sickle cell …
Genomics and Medicine
The categories for the notable accomplishments of research are defined as research that uses genomics to generate or study.
News Release
A 2018 workshop led by Alaska Native people provides a path towards collaborative, community-driven genomics research.
… have been historically underrepresented in biomedical studies , especially in genomics research. There is an …
Research at NHGRI
The NHGRI Cancer Genetics and Comparative Genomics Branch identifies and study genes that contribute to cancer susceptibility and progression.
… integral to this discovery pipeline. In aggregate, their studies have the potential to contribute to improved patient … and comparative genome data. These tools are applied to studies of cancer as well as other diseases. Asks questions … for quality-of-life studies. We also work with both population scientists and clinicians to define gene profiles …