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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
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.
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.
… in the research project (See: Informed Consent for Genomics Research ). The Food and Drug Administration (FDA) …
Fact Sheet
Eugenics is the scientifically erroneous and immoral theory of “racial improvement” and “planned breeding,”
… and policies still exist in the United States. The genomics communities continue to work to scientifically … the HGP began in 1990, there was widespread concern that genomics would lead to a new era of eugenics. Many … use the outcomes of the HGP and subsequent developments in genomics to further marginalize and stigmatize certain …
Fact Sheet
Several regulations and policies stipulate the information that must be given to research participants prior to their enrolling in a study.
… may not require informed consent for all kinds of genomics research (e.g., if the samples or data are … Resource also describes some special considerations for genomics research , which might also be helpful to convey …
Fact Sheets
A transcriptome is a collection of all the gene readouts present in a cell.
Fact Sheets
Genetic mapping offers evidence that a disease transmitted from parent to child is linked to one or more genes and clues about where a gene lies on a chromosome.
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.