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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
The Genomics Landscape
In the September 2019 edition of The Genomics Landscape, NHGRI Director Eric Green details the American Society of Human Genetics' (ASHG) new strategic plan, which aims to get people everywhere to realize the benefits of genomics and genetics research.
… into routine medical practice in a fashion that prevents disease and improves health. Tune into GenomeTV starting on … diseases; using family health history to assess risk; and assessing clinical outcomes and amassing evidence …
The Genomics Landscape
In the September 2023 edition of The Genomics Landscape, NHGRI Director Eric Green, recaps the April 2023 virtual reunion of the leaders of the five genome-sequencing centers (G5), where they tell the untold story on how they ushered the Human Genome Project across the finish line in 2003.
… how the Y chromosome contributes to human health and disease. All the best, … Noncoding variants alter GATA2 … 3 were associated with HCFP1 but could not pinpoint the disease-causing in the implicated genomic region. In this … when searching for the cause of a highly heritable disease. This research was supported by the NHGRI …
Fact Sheet
Genomic data science is a field of study that enables researchers to use powerful computational and statistical methods to decode the functional information hidden in DNA sequences.
… datasets so they can better understand human health and disease. … Genomic data science is a field of study that … uncover how differences in DNA affect human health and disease. Genomic data science emerged as a field in the 1990s … and link them to medically relevant information, such as a risk for disease or an indication for a specific medication …
The Genomics Landscape
In the August 2019 edition of The Genomics Landscape, NHGRI Director Eric Green recognizes the recipients for the Presidential Early Career Award for Scientists and Engineers (PECASE), the highest honor given by the U.S. Government to outstanding scientists and engineers who are beginning their independent research careers.
… The meeting, entitled Genomic Medicine XII: Genomics and Risk Prediction , assessed the biomedical landscape related to polygenic risk scores and how it may be improved. It also aimed to … in concert with genomic variant information in predicting disease risk. Furthermore, the meeting defined the scope of …
Fact Sheet
Learn about the different types of hemoglobin.
… To understand sickle cell disease and gene therapy , you should first know about blood … up red blood cells. … Hemoglobin types and sickle cell disease Your red blood cells contain hemoglobin , a protein … make hemoglobin A. For individuals with sickle cell disease, a small amount of HbF continues to be produced after …
Talking Glossary
Genetic architecture is the combined effect of all genetic influences on a trait.
… and underlying biology. For traits that are related to a disease, knowing the genetic architecture may help us identify people at risk or find treatments. … Genetic architecture is the …
Explainer
Appropriate use of population descriptors in research is a critical scientific issue that is important for advancing genomic science and improving healthcare across human populations.
… or social factors that may contribute to health and disease. In healthcare, race and ethnicity have been … three different studies that look at severity of heart disease among people living in three different regions of the … Asian and Other — when reporting their findings of heart disease across groups. After completing their analysis, all …
Educational Resources
Gene expression is the process by which the information encoded in a gene is used to direct the assembly of a protein molecule.
Educational Resources
A proband is an individual being studied or reported on.
… by a genetic condition or who is concerned they are at risk. Usually, the proband is the first person in a family …
The Genomics Landscape
In the March 2024 issue of The Genomics Landscape, NHGRI Director Eric Green spotlights the Centers of Excellence in Genomic Science (CEGS) Program evaluation.
… community. To date, the centers have pursued using a “high-risk, high-reward” model, aiming to have a high degree of … strengths of the CEGS grant mechanism include its high-risk, high-reward nature and its focus on technology …