Search Results
Educational Resources
A genome-wide association study (GWAS) is an approach used in genetics research to associate specific genetic variations with particular diseases.
… (abbreviated GWAS) is a research approach used to identify genomic variants that are statistically associated with a risk for a disease or a particular trait. The method involves surveying the genomes of many people, looking for genomic variants that occur more …
Research Funding
The Genome Sequencing Program uses genome sequencing to identify genes and genomic variants underlying human inherited disease.
… The Genome Sequencing Program is consists of the following centers funded through multiple funding … creating data resources and tools. The specific activities of the Genome Sequencing Program since the end of the HGP … GSP aims to use genome sequencing to identify genes and genomic variants underlying human inherited disease across …
News Release
NHGRI researchers have successfully used facial recognition software to diagnose a rare, genetic disease in known as DiGeorge syndrome.
… the National Human Genome Research Institute (NHGRI), part of the National Institutes of Health, and their collaborators, have successfully used … facial recognition software to diagnose a rare, genetic disease in Africans, Asians and Latin Americans. … traits), syndrome, continental region of residence and genomic and molecular diagnosis. Previously, the only …
Policy Issues
Participating in genomics research is an opportunity to support exploration of the genome and help scientists understand, prevent, detect and treat disease.
… is an opportunity to support scientific exploration of the genome and to help NIH in its mission to understand, prevent, detect and better treat disease. In some cases, research participants may also gain some individual benefit, such as diagnosis of a disease or access to a treatment in development. …
The Genomics Landscape
In the August 6, 2020 edition of The Genomics Landscape, Dr. Eric Green talks about NHGRI's completion of the third phase of the ENCODE Project and how it reveals the most extensive catalog to date of candidate functional elements that may regulate the genes in the human and mouse genomes.
… Each news cycle brings reminders about the importance of science and its critical role in society, and NHGRI … remains more committed than ever to facilitating the use of genomics for addressing all threats to human health – … historical milestone for genomics: the 30th anniversary of the launch of the Human Genome Project in October 2020. To …
News Release
Scientists from the 1000 Genomes Project Consortium has created the world's largest catalog of genomic differences among humans.
… An international team of scientists from the 1000 Genomes Project Consortium has created the world's largest catalog of genomic differences among humans, providing researchers with … heart disease and other disorders. Understanding how genomic variants contribute to disease may help clinicians …
Educational Resources
Sickle cell disease is a hereditary disease seen most often among people of African ancestry.
… Sickle Cell Disease … Sickle cell disease is a hereditary disease seen most often among people of African ancestry. … Sickle cell disease is a hereditary disease seen most often among people of African ancestry. Caused by mutations in one of the genes …
News Release
NIH programs are establishing which genes and genomic variants play a role in human disease, enabling use in medicine and research.
… Programs supported by the National Institutes of Health are establishing which genes and genomic variants play a role in human disease, enabling their use in genomic medicine and research. … Advancing Knowledge of Human Genomic Variation A special issue of Human Mutation , …
News Release
NIH will fund researchers to develop computational approaches to figure out which differences in DNA make people more susceptible to disease.
… New grants from the National Institutes of Health (NIH) will fund researchers to develop … which differences in DNA make people more susceptible to disease. The awards, which total approximately $11.1 million … - called genetic variants - in the less-studied regions of the genome that are responsible for regulating gene …
Event
On June 17-18, 2021, NHGRI hosts a workshop, Multi-Omics in Health and Disease: Current Applications, Challenges and Future Directions.
… Howard Chang, Stanford University Judy Cho, Icahn School of Medicine at Mt. Sinai Workshop Rationale Moderator: Howard … Chang (Stanford University) 1:05 - 1:15 p.m. Overview of NHGRI’s Strategic Vision Eric Green, NHGRI 1:15 - 1:25 … the Stage - Application of multi-omics to study health and disease Moderator: Judy Cho, Icahn School of Medicine at Mt. …