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News Release
Researchers have conducted the first study to look at the genomic underpinnings of obesity in continental Africans and African Americans.
… has conducted the first study of its kind to look at the genomic underpinnings of obesity in continental Africans and … African Americans and others of African ancestry carry a genomic variant that increases their risk of obesity, a … to search for regions of the genome that contain genomic variants associated with the condition. Most previous studies …
News Release
Scientists studying the genomes of nearly 5,000 people have pinpointed a genetic variant tied to an increased risk for stroke and cardiovascular disease.
… study, researchers scan the genome to identify specific genomic variants associated with a disease. In this case, the … the genes are in the same pathway, so we know that the genomic variants affecting that pathway contribute to the …
News Release
NIH programs are establishing which genes and genomic variants play a role in human disease, enabling use in medicine and research.
… Institutes of Health are establishing which genes and genomic variants play a role in human disease, enabling their use in genomic medicine and research. NIH's Clinical Genome Resource …
Research Funding
The Genome Sequencing Program uses genome sequencing to identify genes and genomic variants underlying human inherited disease.
… GSP aims to use genome sequencing to identify genes and genomic variants underlying human inherited disease across its full … structure, see:  NIH genome sequencing program targets the genomic bases of common, rare disease . A brief history of …
Clinical Research
This team-based clinical service os provided by NHGRI to Intramural Investigators employing exome/genome sequencing.
… data for the presence of possible actionable secondary variants. Any secondary variants found in the research data will be clinically …
15 Ways Genomics Influences Our World
​Genomics is helping us understand what makes each of us different and what makes us the same.
… Project, researchers began developing tools to detect genomic differences between people. When scientists agreed to … today, researchers are still  discovering new types of variants  within human genomes. Human genomic variation is particularly important because a very …
Research Funding
ClinGen will advance genomics in clinical care and improve our understanding of phenotypic and functional effects of genetic variants and their clinical value.
… However, it is difficult to identify which sequence variants are relevant to disease. As a result, information on only a few genomic variants is used in clinical practice. One factor … are developing standard approaches for sharing genomic and phenotypic data provided by clinicians, …
Talking Glossary
A secondary genomic finding refers to a genomic variant, found through the analysis of a person’s genome, that is of potential medical value yet is unrelated to the initial reason for examining the person’s genome.
… Secondary Genomic Finding … A secondary genomic finding refers to a genomic variant, found through the analysis of a person’s …
News Release
NHGRI convened geneticists, biologists, clinicians, bioinformatics specialists and more to provide expert advice on the future of its Genome Sequencing Program.
… the status and opportunities surrounding the discovery of variants conferring risk for common disease. He said that one … and conditions are the epitome of personalized medicine." Genomic Medicine NHGRI supports several genomic medicine programs to explore the best ways to move …
Educational Resources
A genome-wide association study (GWAS) is an approach used in genetics research to associate specific genetic variations with particular diseases.
… (abbreviated GWAS) is a research approach used to identify genomic variants that are statistically associated with a risk for a … involves surveying the genomes of many people, looking for genomic variants that occur more frequently in those with a …