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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 …
About Genomics
A group of researchers, led by the Human Pangenome Reference Consortium, has released a high-quality collection of human genome reference sequences, which together comprise a human “pangenome” reference. Encompassing genome sequences from 47 people of diverse ancestries (with the goal of increasing that number to 350 by mid-2024), the human pangenome reference captures significantly more population diversity than the previous reference sequence.
… Human Pangenome Reference Consortium has released a high-quality collection of human genome reference … human genome missing because of gaps in the sequence. The new human pangenome reference is more comprehensive and … Post: A new, more diverse human genome offers hope for rare genetic diseases CNN : Scientists have updated the …
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
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 …
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 …
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 …
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 …