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Educational Resources
A copy number variation (CNV) is when the number of copies of a particular gene varies from one individual to the next.
… Copy Number Variation (CNV) … A copy number variation (CNV) is when the number of copies of a particular … individual to the next. … Chromosomes, Disease, DNA, Gene Variation … Copy number variation (abbreviated CNV) refers to …
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 … new types of variants  within human genomes. Human genomic variation is particularly important because a very small set … Sarah and other genetics researchers to call for medical studies to stop  using skin color or race as a biological …
Media Availability
Researchers find that more than 80 percent of mouse genes had variations in the nearby regulatory DNA that affects gene activity.
… gene activity. … To paint a clearer picture of how such variation affects gene activity, Fernando Pardo Manuel de … provide new insights into the effects and roles of genetic variation and parental influence on gene activity in mice and … Jeffrey Struewing, M.D., program director, Division of Genomic Medicine, NHGRI; Andrea Beckel-Mitchener, Ph.D., …
Clinical Research
GENE-FORECAST® is developing a community cohort and resource for defining the significance of ancestry-related genomic variation in African-Americans.
… study is developing a community-based cohort and novel genomic science resource for defining the biological significance of ancestry-related genomic variation in African-Americans. … GENE-FORECAST® will test … heart attack and stroke). Based on previous epidemiology studies, it is anticipated that the prevalence of clinically …
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 … variant, according to the study. Most of the genomic studies conducted on obesity to date have been in people of …
Clinical Research
The INSIGHTS study is exploring sickle cell disease in adults.
… disease in adults by looking at many factors, including genomic, microbial, physical and social influences. … The … and social science approaches to identify microbiome, genomic and environmental contributions to sickle cell …
Event
NHGRI workshop seeking scientific perspectives for relating genomic variation to human phenotype.
… 2 ( Madison Room ) How and why to approach structural variation and other "hard to measure" variation? Co-Chairs : … is needed to overcome barriers to performing functional studies at scale? 10:15 - 10:30 a.m Breakout Session Charge … strategy to advance our ability to find and characterize genomic variants, the genomic elements in which they reside …
Clinical Research
This study evaluates patients with inherited metabolic disorders and related medical complications.
… acid levels, and for genetic tests and basic research studies. In some patients, a blood test to measure growth … … Chandler, R. J. and Venditti, C. P. Genetic and genomic systems to study methylmalonic acidemia. Mol Genet …
Clinical Research
The CLINSEQ® Study seeks to learn about the role that your genes play in your health.
… newsletters, and we may also invite you to join spinoff studies that relate to CLINSEQ®.  Return of Genetic Results: …
News Release
Researchers sequence the genomes of healthy participants, then analyze the data to find presumed, mutations that might lead to a genetic condition.
… on its head. Instead of trying to find a mutation in the genomic sequence of a person with a genetic disease, they … volunteers whose genomes were examined, about 100 had genomic variants predicting that they would have a rare … … Genetic mutations and disease, predictive medicine studies, Leslie Biesecker M.D., genetic mutations in healthy …