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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
- Genome Technology Program2
- Enhancing Opportunities in Computational Genomics and Data Science1
- Impact of Genomic Variation on Function (IGVF) Consortium1
- Clinical Genome (ClinGen) Resource1
- 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 cytogeneticist is a geneticist who specializes in the study of chromosomes and the structure and function of the cell.
Educational Resources
Cytogenetics is the branch of genetics that studies the structure of DNA within the cell nucleus.
… Cytogenetics … Cytogenetics is the branch of genetics that studies the structure of DNA within the cell nucleus. … DNA, … diseases. … Cytogenetics is the branch of genetics that studies the structure of DNA within the cell nucleus. … …
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 …
News Release
NIH researchers compared a new genetic animal model of Down syndrome to the standard model and found the updated version to be enhanced.
… Development, senior investigator in the National Human Genome Research Institute (NHGRI) Center for Precision Health … copy of over 200 protein-coding genes to that person’s genome, which causes difficulties with learning, speech and … standard for Down syndrome research, used in preclinical studies for nearly 30 years. Along with some successful …
For Patients and Families
​Clinical research is research conducted with human subjects, or material of human origin, in which the researcher directly interacts with human subjects.
… human subjects. Clinical researchers at the National Human Genome Research Institute (NHGRI) are developing advanced … patients before they ever develop cancer. … All clinical studies are based on a set of rules or directions called a … [fda.gov].  … Clinical researchers at the National Human Genome Research Institute (NHGRI) are developing advanced …
Policy Issues
Clinical research may yield new health-related information about volunteers who have chosen to participate in the studies.
… When conducting clinical research studies, scientists may discover new health-related … Lastly, although much has been learned about the human genome, there remains much to be discovered. Genomic … PubMed ] [5] Van Driest SL, Wells QS, Stallings S, et al. Association of arrhythmia-related genetic variants with …
Clinical Research
An Observational Prospective Natural History Study of Metabolism, Infection and Immunity During the COVID19 Pandemic (At-home Participation).
Talking Glossary
Data science involves the study of large, complex data sets that arise from various types of research projects.
… types of research projects. With respect to genomic studies, such work requires expertise in quantitative …
Clinical Research
The study collects genetic and medical information from people with GNE myopathy to understand the symptoms and clinical course of GNE myopathy.
… . No therapies are currently approved for GNE Myopathy. Studies on mouse models of GNE Myopathy have provided … to be the cause of the muscle decline in GNE Myopathy.  Studies have shown that supplementation of ManNAc to cell … GNE function and enables the production of sialic acid. Studies in mouse models of GNE Myopathy have shown a …
Talking Glossary
Genetics is the branch of biology concerned with the study of inheritance, including the interplay of genes, DNA variation and their interactions with environmental factors.