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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 Program7
- Genomics-Enabled Learning Health Systems (gLHS)2
- Genome Technology Program4
- 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.
… Clinical research is research conducted with human subjects, or material of human origin, in which the researcher directly interacts … advanced methods for studying the fundamental mechanisms of inherited and acquired genetic disorders. … Clinical …
Fact Sheet
Participation in genomics research is essential for improving the health of everyone.
… similar in most ways, our biological processes make each of us unique. Many aspects of those processes are encoded in our DNA, which is based on … who have given permission for their DNA to be used for research are from European ancestry, making many populations …
Fact Sheets
Chromosome abnormalities can either be numerical or structural and usually occur when there is an error in cell division.
… abnormality mean an individual is either missing one of the chromosomes from a pair or has more than two … abnormalities usually occur when there is an error in cell division. There are two kinds of cell division, mitosis and meiosis. Mitosis results in two cells …
About NHGRI
Answers to frequently asked questions on how the NHGRI receives and uses its funding.
… committees have the authority to approve specific sections of the federal budget. Representatives of NHGRI testify … Review Group review extramural research proposals; the Division of Intramural Research Board of Scientific Counselors reviews …
Fact Sheets
Comparative genomics is a field of biological research in which researchers compare the complete genome sequences of different species.
… Comparative genomics is a field of biological research in which researchers use a variety of tools to … in the National Human Genome Research Institute (NHGRI) intramural program also have studied the genomics of various …
Policy Issues
NHGRI wants to ensure that all populations benefit from the advances of genomics research.
… Genomics research is shaping the future of medicine. For these advances of this research to benefit … across the Institute. There are multiple efforts at the intramural, extramural, and policy levels aimed at ensuring … Research (CSER) program is an effort of NHGRI's Division of Genomic Medicine and Division of Genomics and …
Fact Sheet
With increasing complexity in genomic data, researchers are turning to artificial intelligence and machine learning as ways to identify meaningful patterns for healthcare and research purposes.
… Big Picture The genomics field continues to expand the use of computational methods such as artificial intelligence and machine learning to improve our understanding of hidden patterns in large and complex genomics data sets from basic and clinical research projects. Machine learning analyses could benefit …
Fact Sheet
A fact sheet detailing how the project began and how it shaped the future of research and technology.
… by the Human Genome Project was actually a patchwork of multiple people whose identities were intentionally made … to protect their privacy. However, the majority of the sequence came from one person of blended ancestry. … … How did the Human Genome Project affect biological research in general? The Human Genome Project demonstrated …
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 combating the … that uses selective primers to “copy” specific segments of a DNA sequence. COVID-19 PCR tests use primers that match a segment of the virus’s genetic material. This allows many copies of …
Fact Sheet
Several regulations and policies stipulate the information that must be given to research participants prior to their enrolling in a study.
… The Big Picture: Informed consent is crucial in research as it ensures individuals have an informed choice … regulations may not require informed consent for all kinds of genomics research (e.g., if the samples or data are … informed consent. According to the current definition of "human subject" in the Common Rule, informed consent is …