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- Developmental Genotype-Tissue Expression (dGTEx)1
- Multi-Omics for Health and Disease (Multi-Omics)1
- Genomics-Enabled Learning Health Systems (gLHS)2
- Genome Technology Program2
- Enhancing Opportunities in Computational Genomics and Data Science1
- Impact of Genomic Variation on Function (IGVF) Consortium1
- Clinical Genome (ClinGen) Resource1
- Polygenic RIsk MEthods in Diverse populations (PRIMED) Consortium1
- NHGRI Genomic Data Science Analysis, Visualization and Informatics Lab-space (AnVIL)1
- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium1
Clinical Research
An Observational Prospective Natural History Study of Metabolism, Infection and Immunity During the COVID19 Pandemic (At-home Participation).
News Release
National Institutes of Health researchers have published an assessment of 13 studies that took a genotype-first approach to patient care.
… of Health researchers have published an assessment of 13 studies that took a genotype-first approach to patient care. … Ph.D., a genetic counselor at the National Human Genome Research Institute’s (NHGRI) Reverse Phenotyping Core … more than 16,000 research participants who have undergone genome or exome sequencing. Exome and genome sequencing data …
Clinical Research
The study collects genetic and medical information from people with GNE myopathy to understand the symptoms and clinical course of GNE myopathy.
… . No therapies are currently approved for GNE Myopathy. Studies on mouse models of GNE Myopathy have provided … to be the cause of the muscle decline in GNE Myopathy.  Studies have shown that supplementation of ManNAc to cell … GNE function and enables the production of sialic acid. Studies in mouse models of GNE Myopathy have shown a …
News Release
NIH recently awarded approximately $6.8 million in grants to several research teams to study the biology of rare and undiagnosed diseases.
… diseases. The new grants, pending available funds, support studies to better understand the causes and development of … Wise, Ph.D., a program director at the National Human Genome Research Institute (NHGRI), a part of NIH. "The … Translational Sciences. Gene Function Research Grants As genome sequencing reveals new gene variants in UDN patients, …
News Release
An expert panel from the Clinical Genome Resource (ClinGen) has critically reevaluated the scientific evidence for all 17 reported genes, disputing nine of the genes and revealing only three of the genes to be definitively associated with the most common form of the disease.
… inherited heart condition. However, the Clinical Genome Resource ’s (ClinGen) expert panel has critically … of the disease. The work was funded by the National Human Genome Research Institute (NHGRI), part of the National … , the peer-reviewed journal of The American Heart Association. … Twenty years ago, The New York Times published …
Staff
Lindsey Criswell, who became the director of the National Institute of Arthritis and Musculoskeletal and Skin Diseases in February, 2021 is also an associate investigator in NHGRI's Metabolic, Cardiovascular and Inflammatory Disease Genomics Branch.
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.
… Jeannine Mjoseth … Researchers at the National Human Genome Research Institute (NHGRI) and their collaborators are …
News Release
Investigators with The Cancer Genome Atlas have discovered genomic differences in head and neck cancers caused by infection with the human papillomavirus.
… Steven Benowitz … Investigators with The Cancer Genome Atlas (TCGA) Research Network have discovered genomic … the National Cancer Institute (NCI) and the National Human Genome Research Institute (NHGRI), both parts of the National … Projects ZIA-DC-000016, 73 and 74. Reference: The Cancer Genome Atlas Research Network. Comprehensive genomic …
News Release
Researchers from The Cancer Genome Atlas Research Network identify novel mutations in a well-known cancer-causing pathway in lung adenocarcinoma.
… Steven Benowitz … Researchers from The Cancer Genome Atlas (TCGA) Research Network have identified novel … the National Cancer Institute (NCI) and the National Human Genome Research Institute (NHGRI), both part of the National … to secondhand smoke. In addition to the two lung cancer studies, the TCGA Research Network has generated data and …
Fact Sheet
Genomic data science is a field of study that enables researchers to use powerful computational and statistical methods to decode the functional information hidden in DNA sequences.
… ethical responsibilities, as information about a person's genome sequence is associated with complex issues related to … about how they will use and share the resulting genome-sequence data in the process of gaining such informed … must be educated about the implications of their studies and work closely with ethics researchers. … How do …