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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
- 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
Event
On November 5-9, 2024, the National Human Genome Research Institute (NHGRI) will participate in the ASHG Annual Meeting - the world's largest human genetics and genomics meeting and exposition. The annual meeting provides a forum for the presentation and discussion of cutting-edge science in all areas of human genetics.
… Anas Awan Phenome-wide association study of MTHFR variant in UK Biobank and All of Us 1086W Amy Bentley G6PD deficiency … Study 5068W Kuki Davey Functional Validation of HMCN1 as a Candidate Gene for Childhood-Onset Essential Hypertension 2037W Jennifer …
News Release
A team of NIH-funded researchers have generated the first complete chromosome sequences from non-human primates.
… reveal species diversity and insights into evolution. … A team of researchers funded by the National Institutes of … DNA sequences. These sequences are much more challenging for scientists to characterize, and studying repetitive DNA … X chromosomes. The researchers also used a computational method called alignment, which indicates regions of the …
News Release
Funding to advance understanding of RNA biology and development of RNA-based technologies
… to provide approximately $15.4 million over three years for research into the structures, functions and interactions … momentum in the genomics community in recent years, with a new report from the National Academies of Sciences, …
Event
The NHGRI Education and Community Involvement Branch is co-hosting a webinar on January 9 with the Undergraduate Genetics Education Network that will explore the changing landscape of genetics from a largely descriptive field and emerging creative fields.
… For questions and comments, please contact Beth Tuck at … Education and Community Involvement Branch is co-hosting a webinar on January 9 with the Undergraduate Genetics … fields (how can we use what we know to produce something new?). What opportunities can your students expect to see as …
News Release
NHGRI researchers found that a protein in the immune system is particularly adaptable to mutations.
… is extremely adaptable. This flexibility has implications for public health and could inform the design of synthetic proteins. … If anything in nature is a well-oiled machine, it’s the cell. And if you pop open the … proteins that could also be more easily modified for new applications. … About NHGRI and NIH … A protein’s unique …
News Release
NHGRI researchers find that specific abnormal chromosomal patterns in prenatal blood tests warrant whole-body MRI cancer screening.
… the world. She had just gotten married in the summer, had a beautiful honeymoon and found out that she was pregnant. … had a check-up appointment and took a blood test to screen for possible chromosomal abnormalities in the fetus. “At that … findings are reported in a recent paper, published in The New England Journal of Medicine . “When we first started the …
News Release
NIH researchers and collaborators have found that that sickle cell trait is prevalent among diverse human populations.
… (NIH) researchers and collaborators have found that being a carrier for sickle cell disease, known as having sickle cell trait , … backgrounds with sickle cell trait. The study, published in Blood Advances , was led by researchers at National Human …
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.
… 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 …
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.
… patients about their own health. These findings, reported in the American Journal of Human Genetics , demonstrate the … and answer patient questions. The researchers studied a type of AI known as a large language model, which is … NIH’s National Human Genome Research Institute (NHGRI). “For example, electronic health records and the conversations …