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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
Scientists are exploring the genomic and clinical profiles of people with RUNX1 familial platelet disorder.
… and Functional Genomics Branch at the National Human Genome Research Institute (NHGRI), who has led an NIH … over 100 participants with RUNX1 variants, analyzing their genome, blood, bone marrow and other systems. The … person’s risk of developing leukemia. By conducting exome sequencing, which analyzes the coding portion of the genome, …
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.
… Intramural Research Program. … The National Human Genome Research Institute (NHGRI), part of the National … Dr. Phillippy has been an investigator and head of the Genome Informatics Section, where his research group develops … and uses computational methods to sequence and analyze genome sequences. As a key leader of the Telomere-to-Telomere …
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.
… The study was led by scientists at the National Human Genome Research Institute (NHGRI) and the National Institute … del 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.
… 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.
… 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 … stress. … mitochondria, genetic condition, immune system, sequencing, children, virus, mitochondrial, B cells, …
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.
… Dr. Wilson officially retired from The National Human Genome Research Institute (NHGRI) in September 2020, yet he … of your most treasured accomplishments? Wilson:  Whole-genome screens are a way to identify which DNA differences, … 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.
… of Health researchers have shown that areas of the genome related to brain development harbor variants that may … dog lineages. The study , funded by the National Human Genome Research Institute (NHGRI) and published in the … 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.
… 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
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 …