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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.
Staff
Dr. Daniel Gilchrist is a program director of Computational Genomics and Data Science in NHGRI's Division of Genome Science.
… biology, functional DNA elements, disease-linked genomic variants … Daniel Gilchrist, Encyclopedia of DNA Elements, … biology, functional DNA elements, disease-linked genomic variants … Dr. Daniel Gilchrist is a program director of …
Health
A polygenic risk score is one way by which people can learn what their risk of developing a disease is, based on the total number of genomics variants related to the disease.
… each of us unique. These differences, called genomic variants, occur at specific locations within the DNA. DNA is … it is a "T." There are roughly 4 to 5 million such genomic variants in an individual’s genome. These variants may be unique to that individual or occur in others …
News Release
By considering mixed genetic lineages, NHGRI researchers demonstrated that previously inferred links between a genomic variant that helps digest lactose and traits such as a person’s height and cholesterol level may not be valid.
… in the population to uncover true links between genomic variants and traits.” To look at European genetic ancestry, … in the population to uncover true links between genomic variants and traits. As an example, the researchers … are yet to be found. Information about how genomic variants are related to different traits helps researchers …
News Release
Researchers at the National Institutes of Health and their colleagues have identified genomic variants that cause a rare and severe inflammatory skin disorder, known as disabling pansclerotic morphea, and have found a potential treatment.
… of Health and their colleagues have identified genomic variants that cause a rare and severe inflammatory skin … pansclerotic morphea and found that all four have genomic variants in the STAT4 gene. The STAT4 gene encodes a type of … bone marrow. The scientists found that the STAT4 genomic variants result in an overactive STAT4 protein in these four …
News Release
Researchers have now identified three health conditions for which people with SCT are at increased risk.
Talking Glossary
Cell-free DNA testing is a laboratory method that involves analyzing free (i.e., non-cellular) DNA contained within a biological sample, most often to look for genomic variants associated with a hereditary or genetic disorder.
… is a laboratory method that involves analyzing free (i.e., non-cellular) DNA contained within a biological sample, most often to look for genomic variants associated with a hereditary or genetic disorder. … … is a laboratory method that involves analyzing free (i.e., non-cellular) DNA contained within a biological sample, most …
News Release
NHGRI researchers identified 59 genes or gene regions linked to canine athletics.
… have identified about 200 germline mutations - gene variants that can be passed on to subsequent generations - … resistance. Because it's difficult to identify gene variants' influence on human populations over time, NHGRI … turned to domesticated dogs to learn about gene variants for athletic performance. "Identifying gene variants …
News Release
Today, we are updating the way we manage data related to the NIH Genomic Data Sharing Policy.
… tool for helping researchers determine which genomic variants potentially contribute to a disease or disorder. … … … Eric Green, Genome Data Sharing Policy, privacy, genomic variants … Today, we are updating the way we manage data …
News Release
In a large-scale study of people from diverse ancestries, researchers narrowed down the number of genomic variants that are strongly associated with blood lipid levels and generated a polygenic risk score to predict elevated low-density lipoprotein cholesterol levels, a major risk factor for heart disease.
… groups substantially improves identification of genomic variants associated with blood lipid levels. … In a … to finding variants that are important for people of non-European ancestry, this study also demonstrates how … from European ancestry, and the remaining 350,000 were non-European. The studies contained data on blood levels of …