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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
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 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 …
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
A knockout mouse is a laboratory mouse in which researchers have inactivated an existing gene by replacing it or disrupting it with an artificial piece of DNA.
Fact Sheets
Cloning describes a number of different processes that can be used to produce genetically identical copies of a biological entity.
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.
Fact Sheets
Deoxyribonucleic acid (DNA) is a molecule that contains the biological instructions that make each species unique.
Fact Sheets
Polymerase chain reaction (PCR) is a technique used to "amplify" small segments of DNA.