Search Results
Research at NHGRI
The Center for Precision Health Research, formerly Medical Genomics and Metabolic Genetics Branch, studies how health and disease are related to genetic, genomic and metabolic variation.
… by applying tools ranging from high-throughput biologic methods, large scale informatics methods, classic bench laboratory …
The Genomics Landscape
In the March 3, 2022 edition of The Genomics Landscape, NHGRI Director, Eric Green, M.D., Ph.D., highlights the new fact sheets produced by the institute's Communications and Public Liaison Branch.
… and educational opportunities to facilitate diverse and large-scale genomic-based analyses in a cloud environment. By … a wider group of researchers and lowers the barrier for large-scale computational research.  In four years, AnVIL …
Fact Sheets
Genetics refers to the study of genes and their roles in inheritance. Genomics refers to the study of all of a person's genes (the genome).
… anemia and cystic fibrosis are inherited in families, what screening and testing options are available, and, for some … genes in a person or other organism. Due to the success of large-scale biology projects such as the sequencing of the human …
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 …
Educational Resources
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 …
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 …
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 …
Staff
Dr. Meru Sadhu is the head of the Systems Biology and Genome Engineering Section at the National Human Genome Research Institute. ​
… is immense, the section devises strategies to study large numbers of genetic differences in parallel. These … leverage the strengths of CRISPR technologies, large-scale oligonucleotide synthesis, the power of the yeast model … In addition to applying existing genome engineering methods, the section aims to further expand the reach of …
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 …