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- Genetic Architecture of Complex Traits1
- Genome Technology Program1
- Impact of Genomic Variation on Function (IGVF) Consortium1
- NHGRI Genomic Data Science Analysis, Visualization and Informatics Lab-space (AnVIL)1
- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium2
- Developmental Genotype-Tissue Expression (dGTEx)1
- Multi-Omics for Health and Disease (Multi-Omics)1
- Ethical, Legal and Social Implications (ELSI) Research Program2
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.
… with blood lipid levels and generated a polygenic risk score to predict elevated low-density lipoprotein … the health of all people,” says Cashell Jaquish, Ph.D., a genetic epidemiologist and program officer within the … of Health. … Sarah E. Graham et al. The power of genetic diversity in genome-wide association studies of …
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.
… DNA variation and their interactions with environmental factors. … Genetics is the branch of biology concerned with … DNA variation and their interactions with environmental factors. … Genetics is the branch of biology concerned with … DNA variation and their interactions with environmental factors. … Talking Glossary …
News Release
NIH will fund grants totaling $38 million over five years to develop methods that will improve the way that polygenic risk scores can be used to predict disease in diverse communities.
… develop methods that will improve the way that polygenic risk scores can be used to predict disease in diverse … Polygenic risk scores, often referred to as PRS, are a genetic estimate of a person’s risk for specific diseases. … in combination with a person’s lifestyle and environmental factors to tailor their medical management. "One of our …
For Patients and Families
Genetic tests may be used to identify increased risks of health problems, to choose treatments, or to assess responses to treatments.
… Genetic testing uses laboratory methods to look at your … individuals Identify gene changes that may increase the risk to develop a disease Identify gene changes that could be … families understand the scientific, emotional, and ethical factors surrounding the decision to have genetic testing and …
News Release
Researchers build a statistical model using family health history to improve disease risk assessment
Researchers at the National Human Genome Research Institute (NHGRI) have developed a new statistical model that can predict the risk for developing diseases by combining information about family member health and lifestyle factors from family members.
… developed a new statistical model that can predict the risk for developing diseases by combining information from … members about their family health history and lifestyle factors. … Published in March in the peer-reviewed journal … history information to assess which conditions with a genetic component pose a risk to your health and require …
Talking Glossary
A polygenic risk score (abbreviated PRS) uses genomic information alone to assess a person’s chances of having or developing a particular medical condition.
… Polygenic Risk Score (PRS) … A polygenic risk score (abbreviated PRS) uses genomic information alone … genomic variants, without taking environmental or other factors into account. … A polygenic risk score (abbreviated …
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.
… the genomes of nearly 5,000 people have pinpointed a genetic variant tied to an increased risk for stroke, and have also uncovered new details about an … to understand. Numerous genetic and environmental factors can contribute to a person having a stroke. "Our …
Media Availability
Type 2 diabetes is a disease that affects ten percent of the world's population, but the genetics underlying the disease remain poorly understood.
… A comprehensive investigation of the underlying genetic architecture of type 2 diabetes has unveiled the most … look at the genetic differences that increase a person's risk for disease development. The findings, published today … broader genetic profile, as well as environmental factors. This work was funded by the National Human Genome …
News Release
NIH researchers have uncovered a key factor in understanding the elevated cancer risk associated with gene therapy.
… a key factor in understanding the elevated cancer risk associated with gene therapy. They conducted research on … a DNA molecule of AAV used as a vehicle to carry corrected genetic material into a cell. AAV viruses are uniquely suited … M.D., Ph.D., senior author and investigator in NHGRI's Genetic and Molecular Biology Branch. "However, we have …
The Genomics Landscape
In the January 2020 edition of The Genomics Landscape, NHGRI Director Eric Green highlights the newly developed polygenic risk scores webpage, which provides graphical and textual information about polygenic risk scores, describes polygenic traits, introduces how polygenic risk scores can be calculated, and explains how such scores can be interpreted.
… to develop new and more powerful ways to assess people’s genetic risk for developing various diseases. One approach has … Videos What Your Family History Can’t Tell You Risk factors for colonization by Candida auris , an emerging …