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The Genomics Landscape
In the February 3, 2022 edition of The Genomics Landscape, NHGRI Director, Eric Green, M.D., Ph.D., reflects on the December 2021 NHGRI symposium's success in confronting the difficult pasts of eugenics and scientific racism.
… analyses on them there lowers the barrier to performing large-scale computational research by eliminating the need to … and reproduction, disability, LGBTQ+ individuals, genetic screening, social and behavior genomics, and legacies of …
Policies and Guidance
A webpage with information and associated FAQs that describe various expectations for data sharing that are specific to NHGRI-supported studies.
… Studies   Study registration in dbGaP is required for large-scale human genomic studies, including those submitting data … vulnerable or marginalized groups. NHGRI recognizes that methods for de-identification of qualitative and other data …
Event
On November 16-17, 2023, the National Human Genome Institute will co-sponsor a workshop, Advances in the Genetic Architecture of Complex Human Traits, to take a historically grounded and forward-looking approach towards dissecting the genetic architecture of complex traits in humans.
… traits?   Advances in sequencing technologies and optical methods allow us to profile the molecular features of cells at scale. What’s needed, technically or theoretically, for … variables in genetic studies?   There are currently large efforts to diversify the demographics of genetic …
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.
… to identify genomic variants associated with phenotypes in large-scale sequence datasets. NIH is increasingly hosting … reconstruction to the present Does genetic and genomic screening keep open the door to eugenics? Funding …
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 …
Research at NHGRI
The Division of Intramural Research conducts scientific studies in NHGRI's labs on and around the NIH campus in Bethesda, Md.
… greater understanding of human disease and develop better methods for detection, prevention and treatment of heritable … and application of DNA microarray technologies for large-scale analyses of gene expression; creation of innovative …
Fact Sheets
DNA sequencing determines the order of the four chemical building blocks - called "bases" - that make up the DNA molecule.
… over and over again. … Researchers now are able to compare large stretches of DNA - 1 million bases or more - from … rare diseases. Other researchers are studying its use in screening newborns for disease and disease risk. Moreover, … of gene regulation in disease. Ongoing and planned large-scale projects use DNA sequencing to examine the development …
Staff
Dr. Shawn Burgess is the co-deputy director of NHGRI's Intramural Research Program.
… Institute of Technology, where he was part of a large effort to develop insertional mutagenesis in zebrafish, … In previous work, Dr. Burgess participated in a large-scale genetic screen for embryonic lethal phenotypes in the … over which genes are inactivated. As a result, targeted screening in a vertebrate is now possible for the first time, …
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 …
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 …