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News Release
Researchers have released a new high-quality collection of reference human genome sequences that captures substantially more diversity from different human populations than what was previously available.
… The new pangenome reference is a collection of different genomes … system, the pangenome graph has many possible routes for a sequence to take, represented by the different colors. … unique genome, so using a single reference genome sequence for every person can lead to inequities in genomic …
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 … of genome sequencing and comparative genomics. He is a pioneer of single-molecule sequencing for the … over 200 million bases of additional sequence and enabling new studies of genomic function and disease. Dr. Phillippy …
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.
… Study used a “search the genome” approach to reveal how mutations in a gene called UBA1 are associated with inflammatory diseases … 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.
… sequence was generated by the Human Genome Project in 2003. While this reference sequence has been regularly updated as researchers fixed errors and filled in missing regions of the genome, it only reflected data … have helped researchers read longer stretches of DNA at a time, allowing them to fill in missing sequences within …
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.
… Media Availability Researchers for the first time have used a combination of microfluidics and genomics to fish out a … gut bacterium from the sea of 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 … convened virtually to discuss the role of genomics in patient care, covering topics such as rare diseases and … of Human Genetics (ASHG) over $7 million to support the new Genomics and Public Service Fellowship Program. The …
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
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) … Genomics Sciences (CEGS) program, which aims to stimulate new, interdisciplinary approaches to genomic research and … A Lasting Legacy …
News Release
NIH is awarding $5.4 million in first-year funding to establish a new program that supports the integration of genomics into learning health systems. As genomic testing becomes increasingly common, more and more genomic data are available in clinical settings, and learning health systems present an opportunity to translate this evidence quickly and directly into improvements in medical care.
… awarding $5.4 million in first-year funding to establish a new program that supports the integration of genomics into … (gLHS) Network aims to identify and advance approaches for integrating genomic information into existing learning … M.D., M.P.H. Elizabeth M. McNally, M.D., Ph.D. Lucy A. Godley, M.D., Ph.D. Rinad S. Beidas, Ph.D. University of …
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 sensitive information that is collected from participants … institutions will automatically be issued a certificate for applicable research. Compliance with the requirements of …