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- Ethical, Legal and Social Implications (ELSI) Research Program6
- Genomics-Enabled Learning Health Systems (gLHS)2
- Genetic Architecture of Complex Traits1
- Genome Technology Program5
- Human Genome Reference Program (HGRP)2
- Impact of Genomic Variation on Function (IGVF) Consortium3
- Encyclopedia of DNA Elements (ENCODE) Project1
- Molecular Phenotypes of Null Alleles in Cells (MorPhiC)1
- Genomic Innovator Awards2
- NHGRI Genomic Data Science Analysis, Visualization and Informatics Lab-space (AnVIL)3
- 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
News Release
Four NIH grants will support research on the ethical, legal and social questions raised by genomics research advances and genomic information.
… in genomics research and the increasing availability of genomic information. The awards will fund researchers at … diseases; genomic information privacy; communication about prenatal and newborn genomic testing results; and the impact of genomics in American …
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.
… regardless of genetic ancestry. … To prevent an emerging genomic technology from contributing to health disparities, a … of Health has devised new ways to improve a genetic testing method called a polygenic risk score . Since … recalibrated these genetic tests using ancestrally diverse genomic data. As reported in Nature Medicine , the optimized …
Educational Resources
Carrier screening is a genetic test performed on people who display no symptoms for a genetic disorder but may be at risk for passing it on to their children.
… be at risk for passing it on to their children. … Genetic Testing, Genetic Disorder, Alleles, Inheritance, Family Health History … Carrier screening involves testing to see if a person “carries” a genetic variation …
Fact Sheets
Newborn screening tests use a dried blood sample collected during the first week after birth to measure the presence of disease biomarkers.
… genome sequencing in addition, or instead of, existing testing programs? Are there additional considerations to … the ethical, legal, and social implications of receiving genomic information about newborns is an integral component … program is to determine how clinicians and families use genomic sequence information in decision-making. Several of …
15 Ways Genomics Influences Our World
Genomics is transforming how we study, diagnose and treat cancer.
… know that we are increasingly able to detect cancers by testing just a blood sample? Or that we are moving toward … therapy. Such trials are aided by patients who share their genomic data with researchers or even openly with other … cancer than other people. As we learn more about the genomic changes predisposing a person to cancer, we have been …
Health
Genomic medicine involves using genomic information as part of clinical care and the health outcomes and policy implications of that clinical use.
… Genomic medicine is an emerging medical discipline that involves using genomic information about an individual as part of their … are generating the evidence base, and designing and testing the implementation of genome sequencing as part of an …
Fact Sheet
Genomic research has been central to understanding and combating the SARS-CoV-2 (COVID-19) pandemic.
… Key Points: Genomic research has been central to understanding and … in the sample to be detected. … How does COVID-19 PCR testing work? COVID-19 testing uses a modified version of PCR … reduced the cost and increased the speed of genetic and genomic sequencing, enabling the rapid pivot towards COVID-19 …
Educational Resources
Genetic counseling is the professional interaction between a healthcare provider with specialized knowledge of genetics and an individual or family.
… an individual or family. … Genetic Counseling, Healthcare, Prenatal Testing, Genetic Disease, Genetic Disorder, Health …
Genetic Disorders
Down syndrome is a chromosomal condition related to chromosome 21.
… have Down syndrome. It is recommended that thyroid level testing be performed at least yearly. Some infants with Down … infants. … Down Syndrome, Chromosome 21, Genetic Disorder, Prenatal Testing, Newborn Testing, Mental Disability, Trisomy 21, …
The Genomics Landscape
In the September 3, 2020 edition of The Genomics Landscape, Dr. Eric Green talks about the Impact of Genomic Variation on Function (IGVF) Consortium, the 2020 Genomic Innovator Awards and more.
… of the central challenges in biology is understanding how genomic variation affects genome function to influence … multiple funding opportunities to establish the Impact of Genomic Variation on Function (IGVF) Consortium , the … but are not limited to, selecting variants for systematic testing; applying genomic perturbation methods and assaying …