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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
NHGRI will provide approximately $5.8 million over five years to create an educational hub for computational genomics and data science. The hub will provide new educational and research opportunities for students of diverse backgrounds, including those from groups historically underrepresented in the biomedical sciences.
… Office of Genomic Data Science within the National Human Genome Research Institute (NHGRI). “Instead of requiring …
Profile
Reflecting on his NIH career, Dr. Smith recounts his journey from researcher to program director in a conversation with NHGRI science writer Sonja Soo, Ph.D. He looks ahead to a retirement filled with traveling, spending time with friends and family, playing pickleball and brewing ale.
… Glen Evans, who was recently funded to work on the Human Genome Project, studying human chromosome 11. Glen hired me, allowing me to work on the Human Genome Project for three years. My focus was on developing DNA sequencing capabilities, which were applied to generate …
News Release
NIH and Inova Health are launching The Genomic Ascertainment Cohort, a pilot project that will examine gene and gene variant influence on phenotypes.
… of 10,000 human genomes and exomes, the 1-2 percent of the genome that contains protein-coding genes. Once the database … and Metabolic Genetics Branch at NIH's National Human Genome Research Institute (NHGRI). "Our goal is to determine … additional 1,000 patients will be recruited to have genome sequencing performed. Because knowledge of how genomic …
Profile
Carlos Ferreira, M.D., staff clinician in NHGRI's Metabolic Medicine Branch, knows the catalogue of rare skeletal disorders well. With hundreds of known rare bone disorders and more to be discovered, Dr. Ferreira breaks down the challenges of skeletal genomics.
… manifestations. With advances in high-throughput DNA sequencing over the last decade, more skeletal disorders are … in the Metabolic Medicine Branch at the National Human Genome Research Institute (NHGRI), knows these skeletal …
News Release
NHGRI researchers have generated the largest catalog of genetic variants associated with physical traits for domesticated dog breeds.
… In a new study, researchers at the National Human Genome Research Institute (NHGRI) have generated the largest … In addition, a vast number of regions within the dog genome remain similar to the human genome. Thus, dog genomes … health and disease. The researchers used whole genome sequencing and genome-wide association studies to identify …
News Release
National Institutes of Health researchers have discovered a specific network of proteins that is necessary to restore hearing in zebrafish through cell regeneration. The study may inform the development of treatments for hearing loss in humans.
… Burgess, Ph.D., senior investigator in the National Human Genome Research Institute’s (NHGRI) Translational and … had to look at the enhancer sequences within the zebrafish genome. If transcription factors are thought of as the keys … used new genomic techniques called single-cell RNA sequencing and single-cell assay for transposase-accessible …
News Release
NHGRI researchers have discovered a new inflammatory disorder called vacuoles, E1 enzyme, X-linked, autoinflammatory and somatic syndrome (VEXAS), which is caused by mutations in the UBA1 gene.
… Prabarna Ganguly, Ph.D. … Study used a “search the genome” approach to reveal how mutations in a gene called … to disease diagnosis. Researchers from the National Human Genome Research Institute have discovered a new inflammatory … cells carried the gene in its mutated form. Using DNA-sequencing methodologies, the researchers found that the …
News Release
National Institutes 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 … of Allergy and Infectious Disease (NIAID) Centralized Sequencing Protocol, which together allowed analyses to be … more than 16,000 research participants who have undergone genome or exome sequencing. Exome and genome sequencing data …
News Release
NHGRI researchers have developed the Families Sharing Health Assessment and Risk Evaluation (SHARE) workbook, which helps people use their family history to assess their risk for heart disease, diabetes, breast cancer and colorectal cancer.
… with family members. … Researchers at the National Human Genome Research Institute (NHGRI), part of the National …
News Release
Genomicists and clinicians are beginning to offer patients genetic testing for a list of treatable diseases apart from the one that brought them into the clinic.
… which looks at the role that genes play in health by sequencing most of a person's genes and searching for … variant, they all chose to have their thyroids removed. … Genome sequencing — the ability to sequence an individual's … MRI, radiology and other medical tests. In the case of genome sequencing, examples of secondary findings can include …