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Can we make the human genome more diverse?
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Can we make the human genome more diverse?

Scientists want to make a more inclusive 'reference genome' for humanity, but some people are not ready to sign on.

Roxanne Khamsi
Mar 16
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Can we make the human genome more diverse?
roxanne.substack.com

For two decades, the benchmark for human DNA has been a genome released in 2001 made from only a handful of people. In fact, 93% of its sequence came from just 11 individuals, many of whom were recruited through a newspaper advertisement in Buffalo, New York; a whopping 70% of the DNA comes from just one man.

There’s reason for concern. For example, in 2018, one group of researchers sequenced 910 individuals of African descent and discovered a sequence consisting of 300 million DNA letters, or bases, that was missing from the reference genome. That’s roughly 10% of the entire genome. Gaps such as threaten to impede the development of genetic tests and personalized medicines.

Now, scientists want to create a more inclusive reference genome. But it's tricky. My latest, for Nature magazine follows the team trying to update the genome—and the Indigenous groups that have their concerns. You can read all about it here:

A more-inclusive genome project aims to capture all of human diversity
https://www.nature.com/articles/d41586-022-00726-y

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Can we make the human genome more diverse?
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