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- Genome Technology Program2
- Impact of Genomic Variation on Function (IGVF) Consortium1
- 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
- Genomics-Enabled Learning Health Systems (gLHS)1
News Release
NIH-funded research highlights need for diversity in study populations, creates a comprehensive genomic toolkit for scientists
… ethnic groups. The work was funded by the National Human Genome Research Institute (NHGRI) and the National Institute … including people from different ethnic groups in research studies. This paper gives us a glimpse of how ethnic … can researchers comprehend the full potential of the human genome,” said Dr. Hindorff. Through PAGE and subsequent …
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 …
Research at NHGRI
The Genetics and Molecular Biology Branch uses genomic technologies to study the human genome and other organisms and disease mechanisms.
… Branch uses genomic technologies to study the human genome and other organisms and disease mechanisms. … Research …
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 …
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.
News Release
A the largest genomics study of clear cell endometrial cancer (CCEC) tumors has identified mutations in the TAF1 gene.
… endometrial cancer (CCEC) tumors to date, National Human Genome Research Institute (NHGRI) researchers and their … regulates the expression of other genes throughout the genome. In addition, the researchers looked at patterns of …
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 … reported during clinical encounters that involve exome and genome sequencing. [2] While the recommendations do not …
Clinical Research
An Observational Prospective Natural History Study of Metabolism, Infection and Immunity During the COVID19 Pandemic (At-home Participation).
Fact Sheets
Genomics is the study of all of a person's genes (the genome), including interactions of those genes with each other and with the person's environment.
… Genomics is the study of all of a person's genes (the genome), including interactions of those genes with each … word. … An organism's complete set of DNA is called its genome. Virtually every single cell in the body contains a … that could be used for a broad range of biomedical studies. One such use is to look for the genetic variations …
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 …