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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
Researchers with support from NIH will conduct research into the genetic underpinnings of Alzheimer's disease.
… that have been at the forefront of research in Alzheimer's genetics: University of Pennsylvania, Philadelphia; Case … primary federal agency conducting and supporting basic, clinical, and translational medical research, and is …
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.
… of Us identify thousands of associations of proteins and clinical phenotypes 1135W Ariel Williams SGLT2 Inhibitors … PheWAS analysis with PheTK 4043F Nephi Walton Defining a Clinical Data Ecosystem for Genomic Health 1120F … ASHG 2024 … ASHG Policy Forum: The Next Frontier of AI/ML in Human Genetics/Genomics Panelist/Speaker, Dave Kaufman 3:00 – 4:15 …
News Release
NIH researchers identified gene variants that cause a rare syndrome of sporadic fevers, skin rashes and recurring strokes, beginning early in childhood.
… and Digestive and Kidney Diseases, as well as the NIH Clinical Center. NHGRI is one of the 27 institutes and … primary federal agency conducting and supporting basic, clinical, and translational medical research, and is …
The Genomics Landscape
In the July 2023 edition of The Genomics Landscape, NHGRI Director Eric Green describes the evolution of the NHGRI Intramural Research program over the last three decades talks about its future in conducting truly exceptional basic, translational, and clinical genomics research.
… to have recently awarded the American Society of Human Genetics (ASHG) over $7 million to support the new Genomics … of conducting truly exceptional basic, translational, and clinical genomics research. The IRP houses over 60 … of trainees across the full spectrum of research and clinical domains. The training opportunities within the IRP …
Event
On November 1-5, 2023, 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.
… PB5035 Rebekah Waikel Generative methods for Pediatric Genetics Education. PB2385 Edmond Wonkam Tingang Genome-Wide … with Gaucher disease PB4630 Oleg Shchelochkov Genomic and Clinical Correlates of Plasma Urate in the “All of Us” … HPS-1 pulmonary fibrosis PB2027 Zo Bly The landscape of clinical sequencing in diverse populations: lessons learned …
The Genomics Landscape
In the October 2019 edition of The Genomics Landscape, NHGRI Director Eric Green focuses on recent efforts to make the human genome reference sequence useful to basic and clinical researchers and how increasing the representation of human genomic variation will remain key components of NHGRI’s Human Genome Reference Program.
… talk at the fourth annual International Summit in Human Genetics and Genomics at NIH last month. The month-long … the human genome reference sequence useful to basic and clinical researchers and to increase the representation of … left), a medical geneticist trained in the Stanford Clinical Genetics Program, and Hwaida Hannoush, M.D. …
News Release
NIH will award $38.5 million over five years to the Developmental Genotype-Tissue Expression (dGTEx) project, which aims to build a widely available resource of human developmental gene expression in a multitude of tissues for use in basic and clinical research.
… many types of tissues from children for use in basic and clinical research. “There’s still so much we don’t know about … expression in a multitude of tissues for use in basic and clinical research. … NIH will award $38.5 million over five … expression in a multitude of tissues for use in basic and clinical research. … News Release …
Research at NHGRI
CRGGH facilitates understanding of the relationship between genetic variation and population differences in disease distribution to inform health disparities.
… to advance research into the roles of culture, lifestyle, genetics, and genomics in disease etiology, differential … resources. Develop genetic epidemiology and population genetics approaches that will facilitate the analysis of data … with information to help the public better understand genetics, genomics and diagnosed genetic disorders. The …
Research Funding
The PAGE Consortium investigates ancestrally diverse populations to gain a better understanding of how genetic factors influence susceptibility to disease.
… environmental modifiers. … Page II Study Investigators Genetics Epidemiology of Causal Variants Across the Life …
News Release
Extending noninvasive prenatal screening to all 24 human chromosomes can detect genetic disorders that explain miscarriage and abnormalities during pregnancy.
… of the study and head of the division of reproductive genetics at Victorian Clinical Genetics Services, part of Murdoch Childrens … primary federal agency conducting and supporting basic, clinical, and translational medical research, and is …