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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
News Release
The Clinical Sequencing Exploratory Research Consortium has offered an ethical framework to guide pediatricians in pursuing clinical sequencing studies.
… particular, face complicated ethical questions about what information they should disclose, and to whom, when genome … "have to do with the complexity and scope of the [genetic] information, not with ethics." Co-authors of the PEDIATRICS … and career development at sites nationwide. Additional information about NHGRI can be found at its website, …
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
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 …
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
Dr. Shchelochkov will oversee the research training, fellowship and residency programs at the institute.
News Release
NIH issues a final Genomic Data Sharing policy to speed the translation of data into knowledge, improve health and protect patient privacy.
… Its two-tiered data distribution system has made some information and data available to the public without … accelerate research by combining and comparing large and information-rich datasets." A key tenet of the GDS policy is … expectations provided through accompanying Supplemental Information to the NIH Genomic Data Sharing Policy.  The NIH …
News Release
Researchers build a statistical model using family health history to improve disease risk assessment
Researchers at the National Human Genome Research Institute (NHGRI) have developed a new statistical model that can predict the risk for developing diseases by combining information about family member health and lifestyle factors from family members.
… can predict the risk for developing diseases by combining information from family members about their family health … advance physicians’ ability to use family health history information to assess which conditions with a genetic … Most studies on improving family health history information are piecemeal and specific, relying on models …
News Release
NHGRI has selected James Thomas, Ph.D., as the new director of the NIH Intramural Sequencing Center (NISC), to will oversee the importation and use of DNA sequencing technologies, protocols and analyses, ensuring that NIH investigators have access to cutting-edge DNA sequencing methods and specialized genomics protocols to meet their research needs.Â
… center keep pace with a rapidly evolving DNA sequencing technology landscape. He helped adapt and implement …
News Release
A study published NIH researchers revealed that about half of individuals who said they don’t want to receive secondary genomic findings changed their mind after their healthcare provider gave them more detailed information.
… after their healthcare provider gave them more detailed information. The paper, published in Genomics in Medicine , … findings that come out of genome sequencing reflect information that is separate from the primary reason for an … have the opportunity to decide whether to be provided information about genomic variants in these additional genes. …
News Release
NIH will renew three awards totaling $73.2 million over five years to continue building the Clinical Genome (ClinGen) resource, an effort to collect and archive information about clinically relevant genes and genomic variants for use in precision medicine.
… (ClinGen) resource, an effort to collect and archive information about clinically relevant genes and genomic … has been limited by the lack of organized availability of information about which genes and genomic variants are … work to standardize the way researchers document and share information about those variants. “The ClinGen consortium …