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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 …

Research at NHGRI

Genetics and Molecular Biology Branch

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 …

Talking Glossary

Data Science

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 …

For Patients and Families

Clinical Research FAQ

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 …

News Release

NHGRI researchers home in on mutation profiles of clear cell endometrial cancer

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 …

Talking Glossary

Genetics

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.

Policy Issues

Return of Research Results

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

Acute Infection in Mitochondrial Disease

An Observational Prospective Natural History Study of Metabolism, Infection and Immunity During the COVID19 Pandemic (At-home Participation).

Fact Sheets

A Brief Guide to Genomics

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

GNE Myopathy

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 …