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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
To prevent an emerging genomic technology from contributing to health disparities, a scientific team funded by the National Institutes of Health has devised new ways to improve a genetic testing method called a polygenic risk score.
… Improved genetic tests more accurately assess disease risk regardless of genetic ancestry. … To prevent an emerging … improve a genetic testing method called a polygenic risk score . Since polygenic risk scores have not been effective …
eMERGE
Important information about RFAs, upcoming dates, frequently asked questions and helpful links.
… interactive Q&A webinar for the eMERGE Genomic Risk Assessment and Management Network funding opportunities. … by the Steering Committee. If patients have already had genetic testing, can they still be included in the … within the context of this RFA? Secondary findings are genetic test results that are not part of the primary purpose …
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.
… NHGRI-funded program and the first FDA-recognized public genetic variant database  that defines the clinical relevance or validity of genes in genetic disorders for use in precision medicine and research. … Eric Green highlights the newly developed polygenic risk scores webpage, which provides graphical and textual …
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 … you inherit from your mother and your father. … Genetic tests may be used to identify increased risks of … individuals Identify gene changes that may increase the risk to develop a disease Identify gene changes that could be …
News Release
eMERGE Network will support multiple clinical sites and a coordinating center with $75 million over five years.
… Electronic Medical Records and Genomics (eMERGE) Genomic Risk Assessment and Management Network, which establish protocols and methodologies for improved genomic risk assessments for diverse populations and to integrate … ways to incorporate additional clinical data into the risk score calculations. Researchers have termed this combined …
Research Funding
Polygenic RIsk MEthods in Diverse populations (PRIMED) Consortium will work together to develop and implement approaches to integrating extant genotype and phenotype data for the purpose of conducting and disseminating Consortium-wide PRS analyses.
… Sally Adebamowo*, Michele Ramsay, Bamidele Tayo Polygenic Risk Score (PRS) Methods and Analysis for Populations of Diverse … Cohorts and Novel Methods to Improve Polygenic Risk Scores Massachusetts General Hospital Amit Khera …
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 … their findings may provide new clues to underlying genetic and biochemical influences in the development of …
Event
NHGRI sponsored its 12th Genomic Medicine meeting, Genomic Medicine XII: Genomics and Risk Prediction on May 6-7, 2019.
… Medicine meeting, Genomic Medicine XII: Genomics and Risk Prediction . The objectives of the meeting were: Review the state of science of polygenic risk scores and how it can be improved Examine other information sources that should be integrated with genetic variant information in predicting risk Identify …
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 detailed look at the genetic differences that increase a person's risk for disease development. The findings, published today …
Genetic Disorders
WAGR syndrome is a genetic condition caused by a deletion of genes located on chromosome 11, often causing eye problems and increased risk of cancer in babies.
… WAGR syndrome is a rare genetic condition caused by a deletion of a group of genes … WAGR syndrome often have eye problems, and are at high risk for developing certain types of cancer, and mental disability. … WAGR syndrome is a rare genetic condition that can affect both boys and girls. Babies …