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- Multi-Omics for Health and Disease (Multi-Omics)1
- Ethical, Legal and Social Implications (ELSI) Research Program2
- Genomics-Enabled Learning Health Systems (gLHS)2
- Genome Technology Program1
- Impact of Genomic Variation on Function (IGVF) Consortium1
- Clinical Genome (ClinGen) Resource1
- Polygenic RIsk MEthods in Diverse populations (PRIMED) Consortium1
- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium2
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 … developing a particular medical condition. … A polygenic risk score (abbreviated PRS) uses genomic information alone …
Educational Resources
Risk, in the context of genetics, refers to the probability that an individual will be affected by a particular genetic disorder.
… Risk … Risk, in the context of genetics, refers to the probability … Gene Environment Interaction, Inherited, Susceptibility … Risk, as related to genetics, refers to the probability that … person’s genome and environmental exposures can influence risk. An individual’s risk may be higher because they inherit …
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.
… new and more powerful ways to assess people’s genetic risk for developing various diseases. One approach has … approaches for using polygenic risk scores as a tool for disease prediction and, it is hoped, improved health … by variants in more than one gene), such as coronary heart disease, diabetes, and depression. Such methods take into …
Educational Resources
A complex disease is caused by the interaction of multiple genes and environmental factors.
… Complex Disease … A complex disease is caused by the interaction of multiple genes and environmental factors. … Genes, Cancer, Heart Disease, Gene-environment Interactions … A complex disease …
15 Ways Genomics Influences Our World
Genomics is ending diagnostic odysseys for patients with rare diseases.
… identification of at least 15 other children with the same disease, and the establishment of the NGLY1 Foundation  to support research about the disease and pursue possible treatments. In 2015, Matt was one … sequencing can transform the life of someone with a rare disease comes from Sonia Vallabh and Eric Minikel . After a …
15 Ways Genomics Influences Our World
Genomics is revolutionizing health assessments before birth.
… Genomics is revolutionizing health assessments before birth. … Did you know that DNA sequencing … testing has required invasive procedures with associated risk. New DNA sequencing technologies have now truly … and chorionic villus sampling) also posed a low risk to the pregnancy itself. The advent of highly sensitive …
The Genomics Landscape
In the November 2019 edition of The Genomics Landscape, NHGRI Director Eric Green highlights the International Common Disease Alliance's scientific plenary and launch meeting in September, which included an international panel on opportunities emerging outside the U.S., North America, and Europe; discussions about polygenic risk scores; and an overview about data platforms, data sharing, and ethics.
… and the field of genomics. …  The International Common Disease Alliance (ICDA) was recently established as a forum … focus on enabling research and activities to move from disease-associated loci, to disease biology, and then to … linked to oxygen drops during sleep Schizophrenia risk gene linked to cognitive deficits in mice Scientists …
Educational Resources
Huntington's disease is an inherited disease characterized by the progressive loss of brain and muscle function.
… Huntington's Disease … Huntington's disease is an inherited disease characterized by the progressive loss of brain and …
News Release
Knowing your family health history can aid in detecting unique disease risks and lead to better prevention and treatment.
… "Ask Me Anything" (AMA). … Common diseases such as heart disease and diabetes are highly complex, with multiple factors that play into your risk of disease development. These factors - like genetics, … challenges in using that information to improve risk assessments and behavioral recommendations. In our research, …
Talking Glossary
A pathogenic variant is a genomic variant that may increase a person’s risk of developing a condition, disorder or disease.
… variant is a genomic variant that may increase a person’s risk of developing a condition, disorder or disease. … A pathogenic variant is a genomic variant that may … a person’s risk of developing a condition, disorder or disease. In many cases, carrying a pathogenic variant does …