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- Ethical, Legal and Social Implications (ELSI) Research Program1
- Genomics-Enabled Learning Health Systems (gLHS)1
- 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
News Release
Researchers identified regions of the genome associated with skin color variation in some African populations, furthering skin disease and cancer research.
Clinical Research
The goal of this study is to learn more about the genetic contributions to the severity of disease of COVID-19.
… new participants at this time. For other COVID-19 related studies at the National Institutes of Health, visit: … trainees, and guest researchers may join in NIH studies if they wish to do so. You should not feel compelled … Policy for NIH Employees Participating in Medical Research Studies … Who can join? … What is involved? … For NIH …
Educational Resources
A gene pool is the total genetic diversity found within a population or a species.
… A gene pool is the total genetic diversity found within a population or a species. … Genetic Diversity, Genes, Extinction, Population Genetics … A gene pool refers to the combination … all the genes (including alleles) present in a reproducing population or species. A large gene pool has extensive …
Policy Issues
NHGRI wants to ensure that all populations benefit from the advances of genomics research.
… of the study participants reflect the diversity of the population. It is also necessary to understand ethical, legal … research to include basic, clinical, and social sciences studies that focus on identifying, understanding, preventing, … Program Educational Materials About Genetics and Genomics Population Architecture using Genomics and Epidemiology …
News Release
NIH-funded research highlights need for diversity in study populations, creates a comprehensive genomic toolkit for scientists
… including people from different ethnic groups in research studies. This paper gives us a glimpse of how ethnic … each group strengthens the argument that findings from one population cannot always be generalized to others. A variant … burden carried by such groups. The study is part of the Population Architecture using Genomics and Epidemiology …
Clinical Research
A study with the goal of finding the genetic cause of familial Mediterranean fever (FMF) and several novel and undiagnosed causes of autoinflammatory disease.
… with an autoinflammatory syndrome, or if there are other studies that may be more beneficial to the patient. … …
Research Funding
Polygenic RIsk MEthods in Diverse populations (PRIMED) Consortium will work together to develop and implement approaches to integrating extant genotype and phenotype data for the purpose of conducting and disseminating Consortium-wide PRS analyses.
… (source and harmonized) and summary statistics from the studies and consortia proposed by the study sites for either … cross-WG collaboration when additional input is needed. Population Descriptors, Social and Ethical Implications … Wojcik, Braxton Mitchell, and Iain Konigsberg Scope: The Population Descriptors, Social and Ethical Implications …
Clinical Research
This study explores how microbes, such as bacteria and fungi, contribute to a very common skin condition called Atopic Dermatitis, known as eczema.
… Atopic Dermatitis (AD), also known as eczema. With these studies, we hope to lay the groundwork for development of … bacteria and fungi, contribute to this disease. With these studies, we hope to lay the groundwork for development of …
Research at NHGRI
The goal of our Caregiving Study is to understand how caregivers manage the demands of caring for a loved one with a long-term health condition and how social relationships affect caregivers' ability to cope.
… or undiagnosed conditions . Journal of Child and Family Studies . DOI: 10.1007/s10826-023-02645-6. Zajdel M., Keller … Conditions: Implications for the Expansion of Genomics in Population-Based Neonatal Public Health Programs . Int J …
Educational Resources
The founder effect is the reduction in genetic variation that results when a small subset of a large population is used to establish a new colony.
… variation that results when a small subset of a large population is used to establish a new colony. … Genetic Variation, Population Genetics, Human Migration, Genes … A founder … small group of individuals becomes separated from a larger population. Over time, the resulting new subpopulation will …