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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
Event
The NHGRI Center for Genomics and Data Science Research is pleased to host Dr. Ewan Birney for a special seminar to celebrate the center’s first year of operation.
… for a special seminar to celebrate the center’s first year of operation. Dr. Birney’s own research journey matches well with the mission of our center, incorporating diverse aspects of data, computation, and molecular biology to make …
News Release
NHGRI has selected Adam Phillippy, Ph.D. as the founding director of the new Center for Genomics and Data Science Research within the Institute’s Intramural Research Program.
… to provide scientific leadership and shape direction of computational genomics in institute’s Intramural Research Program. … The National Human Genome Research Institute (NHGRI), part of the National Institutes of Health (NIH), has selected Adam …
News Release
A study published NIH researchers revealed that about half of individuals who said they don’t want to receive secondary genomic findings changed their mind after their healthcare provider gave them more detailed information.
… published today by researchers at the National Institutes of Health revealed that about half of individuals who said … The study was led by scientists at the National Human Genome Research Institute (NHGRI) and the National Institute … Aguila III, NHGRI.  With the broader adoption of genome sequencing in clinical care, researchers and the bioethics …
News Release
NIH leaders are calling for the scientific community to develop a consensus on the appropriate use of race and ethnicity in biomedical research.
… Jeannine Mjoseth … The use of racial and ethnic categories in biomedical research is … on its appropriate use in research . National Human Genome Research Institute (NHGRI) Director Eric D. Green, … in biomedical research. ​ … genetic variation, DNA sequencing, health disparities, race and ethnicity, ancestry …
News Release
Researchers find weaker immune response to viral infections in children with mitochondrial disorders
NIH researchers analyzed the gene activities of immune cells in children with mitochondrial disorders and found that their B cells, which produce antibodies to fight viral infections, are less able to survive cellular stress.
… One of the first human studies on how mitochondrial function … in Immunology was led by researchers at the National Human Genome Research Institute (NHGRI), who analyzed gene activity … system. Using a genomic technique called single-cell RNA sequencing, which analyzes gene activity in different cell …
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.
… in darkness, bring unfound light to life." bottled essence of emotion, touchstone testing (lead or gold?) toil, tempest … Dr. Wilson officially retired from The National Human Genome Research Institute (NHGRI) in September 2020, yet he … Wilson:  I hope that the field advances enough so that sequencing becomes routine. I hope we can start to try and …
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.
… behavioral differences in humans. … National Institutes of Health researchers have shown that areas of the genome related to brain development harbor variants that may … sets. These data sets included results of whole-genome sequencing, which analyzes the entire genome, and …
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.
… Exome Aggregation Consortium (ExAC) harbor large numbers of genotypes (an individual's collection of genes). Until … of 10,000 human genomes and exomes, the 1-2 percent of the genome that contains protein-coding genes. Once the database … 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.
… With hundreds of rare bone disorders catalogued and more to be discovered, … 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
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.
… Study shows the role of transcription factors in facilitating cell regeneration … … Burgess, Ph.D., senior investigator in the National Human Genome Research Institute’s (NHGRI) Translational and … used new genomic techniques called single-cell RNA sequencing and single-cell assay for transposase-accessible …