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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 Program2
- Genomics-Enabled Learning Health Systems (gLHS)2
- Genetic Architecture of Complex Traits1
- Genome Technology Program1
- Impact of Genomic Variation on Function (IGVF) Consortium3
- Molecular Phenotypes of Null Alleles in Cells (MorPhiC)1
- Clinical Genome (ClinGen) Resource1
- Genomic Innovator Awards1
- 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
Learn what happens when two genetic neighborhoods merge in brain tumor cells after a gene controlled by a gene-control switch turned on a cancer-growth gene.
News Release
NHGRI researchers investigated the Behcet's disease using Illumina's Immunochip.
… of the Division of Intramural Research investigated the genetics using Illumina's Immunochip. This genotyping chip … - appears in the February 6, 2017 online version of Nature Genetics . Related Resources Dense genotyping of …
News Release
NHGRI researchers are studying the link between Parkinson's disease, and a rare disorder, Gaucher disease, by cross-breeding mice with the disease mutations.
… their findings in the December 2017 issue of M olecular Genetics and Metabolism . … A single mutation in the Gaucher … author and a senior investigator in NHGRI's Medical Genetics Branch . "Understanding why the cross-bred mice get … mice impacts disease onset and course . Molecular Genetics and Metabolism ,Volume 122, Issue 4, 198-208, …
News Release
National Institutes of Health researchers have published an assessment of 13 studies that took a genotype-first approach to patient care.
… contrasts with the typical phenotype-first approach to clinical research, which starts with clinical findings. A genotype-first approach to patient care … The study was published in the American Journal of Human Genetics . “We demonstrated that genotype-first research can …
Event
NHGRI hosts a virtual Q&A with science journalist Angela Saini, author of “Superior: The Return of Race Science” on Thursday, July 23, 2020.
… in the way scientists thought about human variation and genetics. At a time when racialized nationalisms are a … Q&A with science journalist Angela Saini: Race, gender and genetics … NHGRI hosts a virtual Q&A with science journalist …
Event
NHGRI hosts a webinar to provide an overview of the the Entry-Level Modules (ELM) for Training the Genomics Research Workforce (R25-Clinical Trial Not Allowed) (PAR-23-123) funding opportunity.
… (ELM) for Training the Genomics Research Workforce (R25-Clinical Trial Not Allowed) ( PAR-23-123 ) funding … (ELM) for Training the Genomics Research Workforce (R25-Clinical Trial Not Allowed) (PAR-23-123) funding opportunity. … (ELM) for Training the Genomics Research Workforce (R25-Clinical Trial Not Allowed) (PAR-23-123) funding opportunity. …
Event
On March 15, 2021, NHGRI’s Policy and Program Analysis Branch hosted a panel discussion exploring a constant tension at multiple levels in genomics research and medicine, from patient-provider interactions to research engagement with marginalized communities.
… tension that spans all areas of biomedical research and clinical practice is the question of how experts can act in …
News Release
NIH programs are establishing which genes and genomic variants play a role in human disease, enabling use in medicine and research.
… enabling their use in genomic medicine and research. NIH's Clinical Genome Resource ( ClinGen ) and ClinVar programs … Cancer Institute. The goal of ClinGen is to bring together clinical and research experts to develop standard processes … guidelines developed by the American College of Medical Genetics and Genomics and the Association for Molecular …
Profile
Dr. Joan Bailey-Wilson, who retired in September 2022, looks back on her 42-year career as a scientist and reflects on the rapid growth of the genomics field.
… Research Institute, her research shifted the view of how genetics contributes to cancers. … Sonja Soo: What inspired … and in your future. … Soo: How did you decide to study genetics, and specifically statistical genetics? Bailey-Wilson: In college, we had a short …
News Release
NHGRI-funded CSER investigators and colleagues point to need for greater evidence that DNA sequencing helps patients.
… Benowitz … In the nearly four years since its launch, the Clinical Sequencing Exploratory Research (CSER) program has … legal and social implications of using genomics in clinical care. … CSER, which is funded by the National Human … Gail Jarvik, M.D., Ph.D., head of the Division of Medical Genetics at the University of Washington in Seattle. "We have …