“The” human genome was always a misnomer

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Two people picked at random will share around 99.6% of their DNA: that is why the original genome produced by the Human Genome Project has proved so useful. But using a single reference has limits—and direct medical consequences

But there is more to life than Buffalo. That, in essence, is the motive behind the publication this week, in, of a set of 47 new “reference” genomes taken from individuals on four continents .

Sometimes, the limits of using a single reference have direct medical consequences. A set of genes called, for instance, are involved in running the immune system. They are highly variable, and mutations in them have been associated with autoimmune diseases such as type-1 diabetes.

 

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