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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 … the National Institutes of Health (NIH) have discovered a new inflammatory disorder called vacuoles, E1 enzyme, … have overlapping symptoms, which often make it difficult for researchers to diagnose the specific inflammatory disease …
Infographic
An infographic that explains why we need a new human pangenome reference.
… genome missing because of gaps in the sequence. Recently, new types of DNA sequencing technologies have helped researchers read longer stretches of DNA at a time, allowing them to fill in missing sequences within … human populations will help ensure that it is beneficial for everyone and that genomics will advance in an equitable …
Fact Sheet
Genomic data science is a field of study that enables researchers to use powerful computational and statistical methods to decode the functional information hidden in DNA sequences.
… The Big Picture Genomic data science is a field of study that enables researchers to use powerful … methods to decode the functional information hidden in DNA sequences. Estimates predict that genomics research … genomic data science will be a vibrant field of research for many years to come. Performing genomic data science …
News Release
NIH submits new policy that requires all NIH-funded investigators who conduct sensitive, health-related research be issued Certificates of Confidentiality.
… 13, 2016, was to strengthen privacy protections law for research participants. The new law specifically requires additional protections for … the National Institutes of Health (NIH) put forth a new policy which requires that all NIH-funded investigators …
News Release
Jeffery Schloss, Ph.D., founding director of the Division of Genome Sciences, is embarking on a new journey: retirement.
… of the Division of Genome Sciences, is embarking on a new journey: retirement. … A public servant at the National Institutes of Health (NIH) for 24 years, Dr. Schloss retires from a successful career …
Media Availability
Researchers have used a new combination of microfluidics and genomics to fish out a specific gut bacterium from the sea of microbes in the human microbiome.
… Stephen Benowitz … Media Availability Researchers for the first time have used a combination of microfluidics and genomics to fish out a … trillions of microbes in the human microbiome. … The new method has broad applications for isolating and studying many …
The Genomics Landscape
In the July 2023 edition of The Genomics Landscape, NHGRI Director Eric Green describes the evolution of the NHGRI Intramural Research program over the last three decades talks about its future in conducting truly exceptional basic, translational, and clinical genomics research.
… Healthcare Professionals’ Genomics Education Week , was a huge success. Dozens of healthcare professionals and over … same exact DNA, which provides the genetic instructions for producing the proteins essential for living. However, … and predict how cells may change in development. Such a method will be valuable for studies aiming to understand …
News
To prevent an emerging genomic technology from contributing to health disparities, a scientific team funded by the National Institutes of Health has devised new ways to improve a genetic testing method called a polygenic risk score.
… technology from contributing to health disparities, a scientific team funded by the National Institutes of Health has devised new ways to improve a genetic testing method called a polygenic risk score . Since polygenic risk scores have not been effective for all populations, the researchers recalibrated these …
News Release
A new educational resource funded by the National Human Genome Research Institute (NHGRI) is now available to improve genomic literacy among physicians.
… Kiara Palmer … A new educational resource funded by the National Human Genome … Handbook and Toolkit provides materials and guidance for educators implementing introductory training in genomic …
News Release
UDN expands the footprint of the network with a new metabolomics core and increased model organism capabilities.
… Diseases Network (UDN). The total investment planned for the UDN over the next four years will be approximately … $100 million. … Expanding the Network The UDN is a research study developed to improve and accelerate the … to the medical community. "The UDN is pioneering a new personalized medicine model for helping those patients …