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- Developmental Genotype-Tissue Expression (dGTEx)1
- Multi-Omics for Health and Disease (Multi-Omics)1
- Ethical, Legal and Social Implications (ELSI) Research Program6
- Genomics-Enabled Learning Health Systems (gLHS)2
- Genetic Architecture of Complex Traits1
- Genome Technology Program5
- Enhancing Opportunities in Computational Genomics and Data Science1
- Human Genome Reference Program (HGRP)2
- Impact of Genomic Variation on Function (IGVF) Consortium3
- Advancing Genomic Medicine Research (AGMR)1
- Encyclopedia of DNA Elements (ENCODE) Project1
- Molecular Phenotypes of Null Alleles in Cells (MorPhiC)1
- Clinical Genome (ClinGen) Resource1
- Genomic Innovator Awards2
- Polygenic RIsk MEthods in Diverse populations (PRIMED) Consortium1
- NHGRI Genomic Data Science Analysis, Visualization and Informatics Lab-space (AnVIL)2
- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium2
For Patients and Families
A rare disease is generally considered to be a disease that affects fewer than 200,000 people in the United States at any given time.
Fact Sheets
Polymerase chain reaction (PCR) is a technique used to "amplify" small segments of DNA.
News and Events
A collection of institute resources, background information, and points of contact for members of the press.
Fact Sheet
Ribonucleic acid (RNA) is an essential molecule that performs many roles in the cell, from carrying the instructions to make proteins to regulating genes.
… RNA is reverse transcribed into DNA and inserted in a new genomic location. Retrotransposons are very common in the … cells try to stop retrotransposons from “jumping” to other genomic locations because they can be harmful if they land in …
For Patients and Families
Clinical research is research conducted with human subjects, or material of human origin, in which the researcher directly interacts with human subjects.
Fact Sheet
Eugenics is the scientifically erroneous and immoral theory of “racial improvement” and “planned breeding,”
… around whether employers or insurance companies could use genomic information to discriminate against specific … racism in the context of new and emerging genetic and genomic technologies. Building on a long tradition of these … Human Genome Project (HGP) and, more recently, advances in genomic screening technologies, there is some concern about …
Fact Sheet
Several regulations and policies stipulate the information that must be given to research participants prior to their enrolling in a study.
… samples for certain purposes. In accordance with the NIH Genomic Data Sharing (GDS) policy , researchers who intend to … collected or created after January 25, 2015, to derive genomic data may only do so when the original informed … officials about their HIPAA requirements. … Samples, genomic data and health information collected during routine …
Fact Sheet
Informed consent is more than a form; it’s a process. What does it involve?
… requires careful explanation about how the participant’s genomic information will be used during and after the study, … informed consent for large genomics projects? Certain genomic concepts can be challenging to convey. With advances … technology, increased data sharing and concerns around genomic privacy, the genomics field recognizes the need for …
Fact Sheets
Newborn screening tests use a dried blood sample collected during the first week after birth to measure the presence of disease biomarkers.
… 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 … interested in how families understand and respond to genomic information (including optimal ways to communicate …
Fact Sheets
A transcriptome is a collection of all the gene readouts present in a cell.