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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
Dr. Wilson officially retired from The National Human Genome Research Institute (NHGRI) in September 2020, yet he remains on as a scientist emeritus in its Computational and Statistical Genomics Branch, where he was co-chief for 14 years.
… to discuss his decades of dedicated work in the field of genomics. But his booming laugh, joyous candor, deep … a scientist emeritus in its Computational and Statistical Genomics Branch, where he was co-chief for 14 years. Your … his own life. He is the first to say that he came across genomics through happenstance, after taking the time to …
News Release
NHGRI researchers have shown that areas of the genome related to brain development harbor variants that may account for behavioral differences among different dog lineages.
… and chief of the Cancer Genetics and Comparative Genomics Branch within NHGRI’s Intramural Research Program …
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.
… M.D., TGAC co-organizer and chief of the Medical Genomics and Metabolic Genetics Branch at NIH's National …
News Release
NHGRI researchers have produced the first end-to-end DNA sequence of a human chromosome. The results show that generating a precise, base-by-base sequence of a human chromosome is now possible, and will enable researchers to produce a complete sequence of the human genome.
… Ganguly, Ph.D. … This accomplishment opens a new era in genomics research. … Researchers at the National Human Genome … human genome. “This accomplishment begins a new era in genomics research,” said Eric Green, M.D., Ph.D., NHGRI … This is why it is important to have specialists in the genomics community weigh in and ensure the final product is …
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.
… Dr. Ferreira discusses the challenges of skeletal genomics. … Soo: What was your path to becoming a clinician … and learn. … Soo: What are you studying in your skeletal genomics unit? Ferreira: We study specific rare skeletal … are you looking forward to on the horizon of genetics and genomics? Ferreira: I’m hoping to incorporate new genomic …
News Release
The National Human Genome Research Institute (NHGRI) has announced plans to establish a new precision health research program within its Division of Intramural Research.
… led by Leslie Biesecker, M.D., chief of the NHGRI Medical Genomics and Metabolic Genetics Branch, who has extensive … efforts in a rapidly growing area at the interface between genomics and clinical informatics. Leslie Biesecker, M.D., chief of the NHGRI Medical Genomics and Metabolic Genetics Branch. Credit: Ernesto del …
News Release
NHGRI researchers have generated the largest catalog of genetic variants associated with physical traits for domesticated dog breeds.
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.
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.
… Research Institute’s (NHGRI) Translational and Functional Genomics Branch, led the study in collaboration with … loss in humans. The findings were published in Cell Genomics . Although hair cell loss cannot be replaced in … of regeneration. … Read the Study … About NHGRI and NIH … Genomics study identifies unique set of proteins that …
News Release
National Institutes of Health researchers have published an assessment of 13 studies that took a genotype-first approach to patient care.
… of the disorders and the associated genomic variants. “Genomics has the potential to change reactive medicine into … tract, connective tissues, and the nervous system. Genomics has the potential to change reactive medicine into …