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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
In a study published in the journal Science, collaborators at NHGRI, the National University of Ireland, Galway, and the Whitney Laboratory for Marine Bioscience at the University of Florida, Augustine, reported that activation of the gene Tfap2 in adult stem cells in Hydractinia can turn those cells into germ cells in a cycle that can repeat endlessly.
… Prabarna Ganguly, Ph.D. … NHGRI-supported research of Hydractinia  could provide clues to human reproductive … Hydractinia  is dissimilar to humans physiologically, its genome contains a surprisingly large number of genes. … reproductive-based conditions and diseases in humans. “By sequencing and studying the genomes of simpler organisms that …
News Release
The zebrafish is a powerhouse tool that helps researchers better understand the genes that are implicated in disease.
… Sheena Faherty Ph.D. … In the basement of a three-story brick building on the main campus of the National Institutes of Health live nearly half a … are implicated in disease. And, here at the National Human Genome Research Institute (NHGRI), researchers are advancing …
Leadership Initiatives
NHGRI's strategic planning process will establish a 2020 vision for genomics aimed at accelerating scientific and medical breakthroughs.
… In February 2018 the National Human Genome Research Institute (NHGRI) launched a strategic … and medical breakthroughs. During the development of the strategic vision, NHGRI identified paradigm-shifting … Genomic Sequence July 23, 2002:  Summary of Workshop: Sequencing and Re-sequencing the Biome! July 11, 2002: …
News Release
Scientists are exploring the genomic and clinical profiles of people with RUNX1 familial platelet disorder.
… Scientists are exploring the genomic and clinical profiles of people with RUNX1 familial platelet disorder. … A few … and Functional Genomics Branch at the National Human Genome Research Institute (NHGRI), who has led an NIH … not everyone can access genetic testing due to cost or lack of health insurance . Lastly, genetic reference …
News Release
Mothers may be able to reduce guilt over their children's inherited obesity guilt by being more careful in the future about their children's diet.
… weight loss with their overweight patients - for fear of alienating the patients or being ignored - two recent … that doctor-patient talks about the genomic underpinnings of obesity can pay off. … There can be a downside, of course. … and Behavioral Research Branch at the National Human Genome Research Institute (NHGRI). But mothers may be able to …
News Release
Researchers have identified genomic mutations for Carey-Fineman-Ziter syndrome, a congenital myopathy with facial weakness, a cleft palate and scoliosis.
… and Public Liaison Branch … An international team of researchers has identified genomic mutations for … and Metabolic Genetics Branch at the National Human Genome Research Institute (NHGRI), part of NIH. People … the most up-to-date genomic tools, including exome sequencing of blood DNA in affected siblings from three …
Staff
Dr. Chris Gunter is a senior advisor to the NHGRI director on genomics engagement.
… in 1998, studying fragile X syndrome and mechanisms of dynamic mutation. She then moved to Case Western Reserve … VB, Brody LC, Hutter CM, Manolio TA, & National Human Genome Research Institute. Strategic research priorities and … JP, Miller RA, Shireman CL (2015). Toward Innovative, Cost-Effective, and Systemic Solutions to Improve Outcomes …
Staff
Elaine Ostrander is chief of NHGRI's Cancer Genetics and Comparative Genomics Branch.
… Ostrander is Chief and Distinguished Senior Investigator of the Cancer Genetics and Comparative Genomics Branch at the National Human Genome Research Institute of NIH. She also heads the Section … world, and through leadership in the International Dog10K Sequencing Consortium. The lab has further exploited canine …
Staff
Dr. Adam Phillippy is head of the Genome Informatics Section and the chief and senior investigator in the Center for Genomics and Data Science Research at NHGRI.
… Dr. Adam Phillippy is the director of the Center for Genomics and Data Science research and head of the Genome Informatics Section at the National Human Genome … genomics datasets, focusing on the challenges of genome sequencing and comparative genomics. He is a pioneer of …
Staff
Dr. Meru Sadhu is the head of the Systems Biology and Genome Engineering Section at the National Human Genome Research Institute. ​
… The Systems Biology and Genome Engineering Section's goal is to systematically understand the phenotypic consequences of genetic differences. By studying the functional effects of … CA, Andreev I, Chambers MJ, Park M; NISC Comparative Sequencing Program; Bloom JS, Sadhu MJ. Highly complete …