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- Multi-Omics for Health and Disease (Multi-Omics)1
- Ethical, Legal and Social Implications (ELSI) Research Program5
- Genomics-Enabled Learning Health Systems (gLHS)2
- Genome Technology Program5
- Impact of Genomic Variation on Function (IGVF) Consortium1
- Clinical Genome (ClinGen) Resource1
- Polygenic RIsk MEthods in Diverse populations (PRIMED) Consortium1
- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium2
Talking Glossary
A polygenic risk score (abbreviated PRS) uses genomic information alone to assess a person’s chances of having or developing a particular medical condition.
… … A polygenic risk score (abbreviated PRS) uses genomic information alone to assess a person’s chances of having or … … A polygenic risk score (abbreviated PRS) uses genomic information alone to assess a person’s chances of having or … … A polygenic risk score (abbreviated PRS) uses genomic information alone to assess a person’s chances of having or …
Event
The National Human Genome Research Institute is hosting a seminar, "Genomics, Imaging and AI - three technologies that are changing biological research through to clinical practice," on January 10, 2023. Dr. Ewan Birney is the guest speaker.
… (AI). Dr. Ewan Birney will provide a brief tour of this technology development, using examples from the European …
Fact Sheets
Comparative genomics is a field of biological research in which researchers compare the complete genome sequences of different species.
… of living things have changed over time. As DNA sequencing technology becomes more powerful and less expensive, … Genomics, Genome Sequences, DNA Sequence, DNA Sequencing Technology … Comparative genomics is a field of biological …
Fact Sheet
Genomic data science is a field of study that enables researchers to use powerful computational and statistical methods to decode the functional information hidden in DNA sequences.
… and statistical methods to decode the functional information hidden in DNA sequences.  Estimates predict that … sequence DNA has far outpaced our ability to decipher the information it contains, so genomic data science will be a … carries with it a set of ethical responsibilities, as information about a person's genome sequence is associated …
Educational Resources
Genetic discrimination is prejudice directed against people who have or may have a genetic disease.
… a genetic disease. … Genetic Discrimination, GINA, Genetic Information Nondiscrimination Act, DNA, Healthcare … Genetic … disorder. Genetic discrimination can involve such genomic information being used against individuals in a variety of …
About NHGRI
A brochure providing background information about the National Human Genome Research Institute (NHGRI) as an organization in an easy-to-read format.
… … A Look Inside … Formats … NHGRI Brochure … Background information about the National Human Genome Research … an easy-to-read format. … A brochure providing background information about the National Human Genome Research …
News Release
Virtual reality is a rapidly expanding area of tech and gaming and important in medicine and health.
… Victor Cid, M.S., senior computer scientist, Disaster Information Management Research Center at NLM; John Ostuni, … helpful in other mobility disorders and the equity of VR technology across geographic locations. Here, we recap the … provide both, the doctor and the patient, with additional information/visualization tools that can enhance the remote …
News Release
Artificial intelligence tools help scientists decode genomic disorders and communicate genomic risks
NHGRI researchers are increasingly using artificial intelligence tools to answer compelling questions in genomics, such as predicting rare genetic disorders and their severity, and to understand how genomic information influences decision-making.
… and their severity, and to understand how genomic information influences decision-making.  View video on … called neural networks, mimic how the brain processes information. Researchers must train the neural networks to … for health conditions. Using immersive virtual reality technology and machine learning analysis, we want to develop …
News Release
National Institutes of Health researchers have discovered a specific network of proteins that is necessary to restore hearing in zebrafish through cell regeneration. The study may inform the development of treatments for hearing loss in humans.
… Library of Medicine’s National Center for Biotechnology Information.  “Humans and other mammals are born with a set …
News Release
A simple blood draw is replacing a giant needle to the belly for testing their fetuses for a range of genetic disorders.
… obstetrics and gynecology (OB/GYN) must wrestle with this technology's practical and ethical issues, according to a new … OB/GYNs will be called on to communicate fetal genetic information to parents," said Benjamin Berkman, J.D., M.P.H., … though not available now, will provide much more information than revealed by amniocentesis . That's part of …