The genetic study offers complete and diversified offers


image: This figure shows a dimensionality reduction method, UMAP, applied to genetic data from the National Geographic Genographic Project, where each point represents an individual, with colors determined from a linear combination of the mixing proportions of each individual ( the colors correspond to each continental ancestry, with European = red, African = yellow, Native American = green, East Asian = blue, South Asian = purple).
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Credit: Dai et al./AJHG

Researchers have assembled one of the most comprehensive population genetics studies ever conducted in the United States, bringing together large-scale genetic data from more than 32,000 participants in the National Geographic Genographic Project. This new look at the United States, published on March 5 in the American Journal of Human Genetics, reveals a remarkable degree of complexity. In addition to offering an intriguing view of the country’s recent history, the findings also have important implications for health and medicine, the researchers said.

“We inferred the demographic history of the United States on a small scale by combining genetic, geospatial and multigenerational birth registration data,” says Alicia Martin (@genetisaur) of the Broad Institute at MIT and Harvard. “This provides important lessons for the future: If we want genetic technologies to benefit everyone, we need to rethink our current approach to genetic studies, as they typically lack a huge chunk of America – and more broadly human diversity. “.

Although much effort was made to understand genetic diversity in the United States, small-scale models were less clear for minority populations, especially for descendants from Latin America and Africa with complex ancestral histories. . There had also been little research on the population structure of individuals in the United States of East Asian, South Asian, and Middle Eastern ancestry.

Martin and colleagues report that the new effort had several distinct advantages over other large-scale population genetics datasets. First, the genetic data of each consenting participant in the Genographic Project is available to researchers around the world to answer anthropological questions. Most of the study participants also provided their postal code as well as data on their place of birth and ethnicity for themselves, their parents and their grandparents, which provides a better understanding of recent history. .

Their analysis revealed the following:

  • Hispanic / Latino populations exhibit a remarkably complex population structure, comprising geographically varying proportions of Native American, European, and African ancestry.
  • The evidence revealed a north-south barrier to migration among African Americans, consistent with the transatlantic slave trade and historical patterns of segregation between states.
  • Some Asian Americans, a rapidly growing group in the United States that had often been overlooked in previous genetic studies, exhibit high patterns of kinship consistent with close-relative marriages among their ancestors.
  • People of European descent have a subtle and unevenly distributed structure. For example, Irish, Finnish, and Acadian (French Canadian) descendants are common in New England, the northwest, and the south, respectively.

Martin also noted that the Hispanic / Latino populations have indigenous origins spanning North, Central and South America over several generations. These roots vary in quantity and duration of onset among Californians, New Mexicans, Texans, and Floridians on average.

The researchers say these findings are “the tip of the iceberg”. As the number of participants in this and other ongoing studies continues to grow, the view of the history of the American population will become even clearer.

Martin says they will continue this work as the available data increases to include approximately 250,000 Americans. In future studies, they also plan to expand to people who may or may not live in the United States, which Martin says will help unravel relationships between underrepresented populations, such as Hispanic / Latino populations in the United States. Florida that have ancestral roots. from Cuba, Puerto Rico, Mexico and elsewhere.

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This work was supported by the National Institutes of Health and the National Geographic Society.

American Journal of Human Genetics, Dai et al. : “US Population Stories Revealed by Small Scale Migration and Haplotype Analysis” https://www.cell.com/ajhg/fulltext/S0002-9297(20)30044-6

the American Journal of Human Genetics (@AJHGNews), published by Cell Press for the American Society of Human Genetics, is a monthly journal that provides an account of research and review relating to heredity in humans and the application of genetic principles in medicine and public policy, as well as related fields of molecular and cellular biology. Visit: http://www.cell.com/ajhg. To receive Cell Press media alerts, contact [email protected]


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