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About Genomics
A group of researchers, led by the Human Pangenome Reference Consortium, has released a high-quality collection of human genome reference sequences, which together comprise a human “pangenome” reference. Encompassing genome sequences from 47 people of diverse ancestries (with the goal of increasing that number to 350 by mid-2024), the human pangenome reference captures significantly more population diversity than the previous reference sequence.
Staff
Vence Bonham is the acting deputy director for NHGRI and an associate investigator in NHGRI's Social and Behavioral Research Branch.
… … Vence Bonham, health disparities, race and ethnicity, ancestry, genetic variation, sickle cell trait, sickle cell …
Policy Issues
Most genetic tests today are not regulated, meaning that they go to market without any independent analysis to verify the claims of the seller.
… Regulation Of Genetic Tests, Genetic Testing, 23andMe, Ancestry, Health Information From Genetic Testing … Most …
Clinical Research
This study evaluates patients with inherited metabolic disorders and related medical complications.
… Disorder, Inherited Disorder, Family Health History, Ancestry, Genetic Disease, Clinical Study, Genetics Study … …
15 Ways Genomics Influences Our World
Advances in genomics are helping you access information about your genome from your home.
… of such DTC genomic testing is for revealing family ancestry or genealogy [see Human Origins and Ancestry ]. For example, the company Ancestry.com started as a place to search historical and …
Staff
Lindsey Criswell, who became the director of the National Institute of Arthritis and Musculoskeletal and Skin Diseases in February, 2021 is also an associate investigator in NHGRI's Metabolic, Cardiovascular and Inflammatory Disease Genomics Branch.
… complex (MHC), biological pathways, genetic ancestry, epigenetic factors … Lindsey Criswell, who became …
Educational Resources
Sickle cell disease is a hereditary disease seen most often among people of African ancestry.
… hereditary disease seen most often among people of African ancestry. … Autosome, Birth Defect, Gene, Inherited, … hereditary disease seen most often among people of African ancestry. Caused by mutations in one of the genes that encode …
About Genomics
Appropriate use of population descriptors in scientific research is critical for the advancement of genomic science and human health for all.
… benefits, and challenges in using race, ethnicity, ancestry, and other population descriptors in genomics … Read the Report: Use of Race, Ethnicity, and Ancestry as Population Descriptors in Genomics Research … of population descriptors, their relation to genetic ancestry, their use in society throughout the last few …
News
To prevent an emerging genomic technology from contributing to health disparities, a scientific team funded by the National Institutes of Health has devised new ways to improve a genetic testing method called a polygenic risk score.
… more accurately assess disease risk regardless of genetic ancestry. … To prevent an emerging genomic technology from … the scores often heavily overrepresent people of European ancestry. “Recently, more and more studies incorporate multi-ancestry genomic data into the development of polygenic risk …
News Release
In an article published in the American Journal of Human Genetics, researchers have found that words scientists use to describe populations have changed from 1949 to 2018.
… reveals that use of the term “race” has declined, while “ancestry” and “ethnicity” have increased. … National … use to describe human populations — such as race, ancestry, and ethnicity — significantly changed from 1949 to … when paired with “ethnicity.” In addition, the use of “ancestry” and “ethnicity” also has increased. The survey, …