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When will the first genome-wide association study of more than 1 million African Americans be published?

In recent years, there has been growing interest in diversifying the samples used in studies that train models to predict human traits, including disease, from genetic data. See for instance, two recent studies. This desire is primarily driven by findings that models trained on European-descent populations only generalize imperfectly to other populations, and particularly poorly to African descent populations, including African Americans.

The Genome-Wide Association Study Diversity Monitor shows an overview of GWAS findings broken down by ancestry of participants. A GWAS (genome-wide association study) is a study that attempts to predict a phenotype from genome-wide genetic data, and not just a specific region.

As of writing, 1.4% were African (African American or Afro-Caribbean). The largest listed study with persons of African descent had 68.2k persons, and was published in 2019.

This question asks: When will the first study be published that includes at least 1,000,000 persons of African descent in a GWAS?

For the purposes of this question:

  • Published studies mean research papers that are open to public readership, or published in a peer-reviewed journal. This includes preprints (e.g. biorXiv), and other open science documents.

  • Whole exome sequencing, whole genome sequencing, and genome-wide genotyping arrays count.

  • African American and Afro-Caribbean and other majority African ancestry populations are counted as "African" though they are part non-African ancestry. The data are classified this way in studies.

  • The question will resolve as >2040 if no such study is published before December 31, 2040.


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