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NHGRI participates in the South By Southwest (SXSW) conference to help increase genomic literacy.
… technology currently being worked on in genomics including large-scale genetic sequencing, gene editing, artificial …
News Release
Researchers from the NHGRI-funded Impact of Genomic Variation on Function Consortium are exploring how genomic variation affects genome function.
… They are also finding new ways improve the sensitivity and scale of functional assays and to develop predictive models. … disease traits are amongst the most studied traits in large-scale genomic studies. These traits have been linked to … BEAN refines an existing approach called base editing screening, in which researchers create and study the …
Staff
Dr. Colin Fletcher is the program director in the Knockout Mouse Project (KOMP) in NHGRI's Extramural Research Program.
… Diego, where he oversaw the design and implementation of a large-scale mouse ENU mutagenesis screen. He has been working in …
Fact Sheet
mRNA vaccines inject cells with instructions to generate a protein that is normally found on the surface of SARS-CoV-2, the virus that causes COVID-19.
… safe and effective. Two mRNA vaccines have been tested in large-scale clinical trials that included elderly and medically …
Staff
Dr. Wilson is the co-chief of and senior investigator in NHGRI's Computational and Statistical Genomics Branch.
… of the statistical properties of newly developed methods of genetic analysis for quantitative traits. … The … for sequence variants (tiled regression). In addition, the large and small sample statistical properties of these tests … (millions), e.g. high density SNP panels, and/or large-scale sequencing producing large numbers of rare sequence …
The Genomics Landscape
In the July 7, 2022 edition of The Genomics Landscape, NHGRI Director, Eric Green, M.D., Ph.D., emphasizes the importance of the Technology Transfer Office and its mission to manage all the legal negotiations that help to protect federally funded research from being unduly exploited, while also giving that research avenues to reach patients through the commercialization of promising advances.
… work, NHGRI intramural researchers must responsibly share large-scale genomic data with the broader research community. The … Claire joined the NHGRI TTO in 1999. The office oversees a large range of activities that involve the exchange and …
News Release
NHGRI convened geneticists, biologists, clinicians, bioinformatics specialists and more to provide expert advice on the future of its Genome Sequencing Program.
… into the clinic. In addition to the long-established Large-Scale Sequencing and Analysis Center (LSAC) program, the GSP … This means supporting research into new DNA sequencing methods and data analysis techniques and solving difficult …
Fact Sheet
Genomic variation accounts for some of the differences among people, including important aspects of their health and susceptibility to diseases.
… in human genomes, ranging from small differences to large differences.  A very small subset of genomic variants … of new experimental technologies and data-analysis methods. Such advances are readily applicable to ongoing … of nucleotides to larger chromosomal regions. These large-scale genomic differences are called structural variants and …
The Genomics Landscape
In 2022, The Genomics Landscape spotlighted genomic data sharing each month in a series of entries. This page contains a collection of each of those entries.
… These datasets are also used to develop computational methods. The GTEx Consortium consists of over 200 … analyses on them there lowers the barrier to performing large-scale computational research by eliminating the need to …
Research Funding
Building upon a foundation of quantitative genetics laid over a century ago, applying modern genomic approaches to resolve how genetic and non-genetic factors shape variation in human diseases and traits.
… variation. These issues have recently risen to the fore as large-scale genome-wide association studies (GWAS) reveal … November 16-17, 2023 … Developing Novel Theory and Methods for Understanding the Genetic Architecture of Complex …