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The Genomics Landscape
In the August 4, 2022 edition of The Genomics Landscape, NHGRI Director, Eric Green, M.D., Ph.D., talks about the establishment of the Global Biodata Coalition (GBC), which aims to move towards more internationally coordinated, sustainable, and streamlined mechanisms that support the biodata ecosystem.
… Director of the then-named National Center for Human Genome Research in the early 1990’s! If you would like to … that the goal of researchers contributing to the Human Genome Project (HGP) was to submit their sequence data into a …  Starting with the Human Genome Project, the field of genomics has been at the …
The Genomics Landscape
In the June 2, 2022 edition of The Genomics Landscape, NHGRI Director, Eric Green, M.D., Ph.D., highlights the new and improved Talking Glossary of Genomic and Genetic Terms - one of the premier educational resources offered by NHGRI, and it aims to help users better understand the basics of genomics and genetics.
… large-scale sequence datasets. NIH is increasingly hosting genome-sequence datasets and other genomic datasets in cloud … the talking glossary is one of the most visited sites on genome.gov . Some of the talking glossary’s terms receive over 70,000 views per month. This resource is filled with definitions, audio recordings, and …
The Genomics Landscape
In the January 2020 edition of The Genomics Landscape, NHGRI Director Eric Green highlights the newly developed polygenic risk scores webpage, which provides graphical and textual information about polygenic risk scores, describes polygenic traits, introduces how polygenic risk scores can be calculated, and explains how such scores can be interpreted.
… polygenic risk scores and more! Specifically, the new resource describes polygenic traits, introduces how … into account information about variants across a person’s genome, comparing the collection of such genomic variants in … research investigating how such information can be used in clinical practice. NHGRI concluded that an informational …
News Release
Nurses and other health professionals looking to integrate genomics into patient care now have access to an online toolkit with more than 100 resources.
… part of a new website launched by the National Human Genome Research Institute. … Developed with input from clinical educators and administrators, The Method for … and understand how to prepare their workforce for emerging clinical applications. "The MINC toolkit is a starting point …
Research at NHGRI
NHGRI researchers develop freely available software and analysis tools to help researchers around the world analyze and explore their genomic data.
… Researchers at the National Human Genome Research Institute have developed a number of software … Complementary Pairs Stability Selection for Genome-Wide Association Studies (ComPaSS-GWAS) An ad-hoc … predicting microRNA target site variants (miR-TSVs) from clinical genomic data sets. Tiled Regression Analysis A …
Staff
Dr. Oleg Shchelochkov is Director of NHGRI Clinical and Laboratory Residencies and Fellowships, and an Associate Investigator in the Office of the Clinical Director.
… Dr. Shchelochkov is a board-certified pediatrician, clinical geneticist and medical biochemical geneticist, and … NHGRI appointed Dr. Shchelochkov as the new Director of Clinical and Laboratory Residencies and Fellowships. Dr. … Dr. Shchelochkov’s clinical research has focused on understanding the natural …
Talking Glossary
Genomic medicine is a medical discipline that involves using a person’s genomic information as part of their clinical care.
… using a person’s genomic information as part of their clinical care. … using a person’s genomic information as part of their clinical care. Other similar terms include individualized … using a person’s genomic information as part of their clinical care. …
News Release
Research studies are now using polygenic risk scores to determine a person’s inherited risk for certain diseases, but there are inconsistencies in how these scores are calculated. NHGRI has published guidelines in Nature for how these scores should be reported.
… to compromise the adoption of polygenic risk scores in clinical care. To address this concern, the research teams, funded primarily by the National Human Genome Research Institute (NHGRI), have published a 22-item … framework — created by NHGRI’s Clinical Genome Resource's (ClinGen) Complex Disease Working Group  and the Polygenic …
Clinical Research
A Longitudinal Natural History Study of Children with Mitochondrial Disease (at the NIH Clinical Center).
… to define the relationship between infection, immunity and clinical decline in individuals with mitochondrial disease. … with mitochondrial disease can lead to worsening clinical symptoms, particularly neurologic symptoms.  … is to understand the relationship between infection and clinical decline in patients with mitochondrial disease. …
The Genomics Landscape
In the October 2019 edition of The Genomics Landscape, NHGRI Director Eric Green focuses on recent efforts to make the human genome reference sequence useful to basic and clinical researchers and how increasing the representation of human genomic variation will remain key components of NHGRI’s Human Genome Reference Program.
… The Genome: Unlocking Life's Code  exhibition is currently …  Research studies that generate genome-sequence data rely on a reference sequence for making … the human genome reference sequence useful to basic and clinical researchers and to increase the representation of …