Project Personnel, Albert Einstein College of Medicine
1 active project
Duplicate of Identity-by-descent in the United States/Southwest
Scientific Questions Being Studied
We are leveraging the full genomic and population diversity of the All of Us project to understand the genetic ancestral basis of diversity in the causes, etiology and treatment of health outcomes. All of Us provides the racial and ethnic background of participants, but these are inaccurate proxies for genetic ancestry, which will help us understand the contribution of genetic ancestral differences among individuals to the biological basis of health outcomes. Therefore, we will measure genetic diversity, identify the genetic ancestry of All of Us participants throughout the United States. This information will help us better understand biological variation that contributes to differences in health outcomes.
- Population Health
We are first quantifying fine scale population substructure using genomic approaches that measure: a) global genetic diversity, or the total proportion of different global ancestries represented in an individual's genome; b) local genetic ancestry, or where in the genome this ancestry is located in an individual; c) detection of genomic segments shared identity-by-descent (IBD). These IBD segments are segments of DNA shared between individuals from a shared common ancestor. We are using Hail, PLINK, ADMIXTURE, RFMix, MOSAIC,TBWPT, and in-house Python and R scripts and other genomic software to capture this variation.
We anticipate that we will identify founder populations that are distributed differently across the United States, and distinguish population subgroups that are finer grained than either racial categories or continental ancestry categories. For example, the Latino ethnicity comprises individuals who are Dominican, Puerto Rican, Mexican, Cuban, etc. We anticipate being able to distinguish these groups, as well as the admixture among these groups, to more accurately understand the contribution of ancestry to health outcomes. Quantification this ancestry is the first step to understanding the biological diversity within the United States.
Demographic Categories of Interest
This study will not center on underrepresented populations.
Data Set UsedControlled Tier
- chenxin zhang - Project Personnel, Albert Einstein College of Medicine
- Mariko Segawa - Research Fellow, Albert Einstein College of Medicine
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