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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
News Release
The Genetic Counseling Training Program, a collaborative program between the National Institutes of Health and Johns Hopkins University, will be undergoing program planning and development that will reshape training of genetic counselors across the career spectrum.
… said NHGRI Director Eric Green, M.D., Ph.D. “With genomics being increasingly integrated into healthcare, our institute is committed to continuing our support for the genetic counseling field in research and career … use the program finder from the Accreditation Council for Genetic Counseling. … NIH pauses its Genetic Counseling …
News Release
NHGRI researchers find that specific abnormal chromosomal patterns in prenatal blood tests warrant whole-body MRI cancer screening.
… had a check-up appointment and took a blood test to screen for possible chromosomal abnormalities in the fetus. “At that … the next few days, worrying about what the results meant for their future baby. But when they met with the genetic … the clinic in 2011, giving parents the option to screen for the presence of extra chromosomes, such as trisomy 21 …
News Release
NIH researchers and their colleagues identified multidrug-resistant pathogens on the skin of residents in nursing homes. They found that these potentially dangerous microbes spread widely among residents, indicating a need for improved testing and infection control measures to protect people in nursing homes and other vulnerable populations.
… microbes spread widely among residents, indicating a need for improved testing and infection control measures to … are of growing concern, according to the Centers for Disease Control (CDC) , because of this fungus’s frequent … microbes spread widely among residents, indicating a need for improved testing and infection control measures to …
News Release
NIH researchers discover that while artificial intelligence (AI) tools can make accurate diagnoses from textbook-like descriptions of genetic diseases, the tools are significantly less accurate when analyzing summaries written by patients about their own health.
… NIH’s National Human Genome Research Institute (NHGRI). “For example, electronic health records and the conversations … words. Large language models have been a huge leap forward for AI, and being able to analyze words in a clinically … possible symptoms. They selected three to five symptoms for each condition and generated questions phrased in a …
News Release
Researchers from NHGRI, Oxford University and other National Institutes of Health centers have developed and tested a new method to predict hospital-acquired infections involving five other important pathogens.
… "But is there a way we can accurately predict your risk for acquiring a hospital-acquired infection just by using … hospital data?" Hospital staff usually test patients for infections when they start showing symptoms, but that … Health Service (NHS) hospitals in Oxfordshire, U.K. for at least 48 hours between 2011 and 2015. The NHS, which …
News Release
Doctors and researchers reunite with patient who received gene therapy for GM1 gangliosidosis.
… researchers reunite with patient who received gene therapy for GM1 gangliosidosis. … In a sun-lit conference room at the … in Bethesda, Maryland, Cyndi Tifft, M.D., Ph.D., prepares for a tea party. She lays out plates of cookies, chips and … tea party every time her patient Jojo (last name withheld for privacy) comes to visit. But today is extra special. It …
Event
NHGRI is conducting three Zoom-based listening sessions to help gather information from the national medical genetics community regarding the current and future state of the medical geneticist workforce.
… to help gather information from the national genetics and genomics community regarding the current and future state of … and potential solutions in clinical genetics and genomics, as well as to determine possible next steps to … this topic. We hope that members of the genetics and genomics community can attend at least one of the three …