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- Developmental Genotype-Tissue Expression (dGTEx)1
- Multi-Omics for Health and Disease (Multi-Omics)1
- Genomics-Enabled Learning Health Systems (gLHS)2
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- Enhancing Opportunities in Computational Genomics and Data Science1
- Impact of Genomic Variation on Function (IGVF) Consortium1
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- Polygenic RIsk MEthods in Diverse populations (PRIMED) Consortium1
- NHGRI Genomic Data Science Analysis, Visualization and Informatics Lab-space (AnVIL)1
- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium1
Educational Resources
A genome-wide association study (GWAS) is an approach used in genetics research to associate specific genetic variations with particular diseases.
… Genome-Wide Association Studies (GWAS) … A genome-wide association study (GWAS) is an …
Fact Sheets
Genome-wide association studies involve scanning markers across the genomes of many people to find genetic variations associated with a particular disease​.
… Genome-wide association studies involve scanning markers across the genomes of many …
Educational Resources
Personalized medicine is an emerging practice of medicine that uses an individual's genetic profile to guide decisions made in regard to the prevention, diagnosis, and treatment of disease.
… prevention, diagnosis, and treatment of disease. … Human Genome Project, Genetic Counseling, Genome-Wide Association Studies (GWAS), Pedigree, Pharmacogenomics, …
Clinical Research
The INSIGHTS study is exploring sickle cell disease in adults.
… are investigating the disease as a whole and studying the wide range of complications that sickle cell patients … in helping researchers understand how your environment and genome may impact your sickle cell disease? Are you … About Sickle Cell Disease Sickle Cell Trait National Human Genome Research Institute - Learning about Sickle Cell …
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 … director Charles P. Venditti, M.D., Ph.D. Organic Acidemia Association A volunteer non-profit organization whose mission …
Talking Glossary
Un estudio de asociación de genoma completo (GWAS por sus siglas en inglés) es un enfoque utilizado en la investigación genética para asociar variaciones genéticas especÃficas con ciertas enfermedades.
… genéticas especÃficas con ciertas enfermedades. … A genome-wide association study (abbreviated GWAS) is a research approach …
Clinical Research
A study where both genotypic (individual genetics) and phenotypic (individual disease characteristics) patient data would be analyzed using advanced data-analytics programs to derive meaningful associations for the development of prevention, management and treatment strategies.
… be collected for in-depth testing: Whole exome or whole genome sequencing, RNA sequencing on blood precursors, a SNP …
Clinical Research
The CLINSEQ® Study seeks to learn about the role that your genes play in your health.
… newsletters, and we may also invite you to join spinoff studies that relate to CLINSEQ®.  Return of Genetic Results: … will have some results to receive, they may pertain to a wide variety of diseases, and they may or may not be … on its head. Trans-NIH Study Explores Medical Role for Genome Sequencing 2007: Patients with Cardiovascular Disease …
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 …
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 …