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Diversity of African Genomes

Geneticists are learning that they must include more genomes of African populations in their analyses and studies of modern DNA, but now they're also learning that looking at a single population from Africa in any given study isn't good enough.

According to research presented at the annual meeting of the American Society of Human Genetics (ASHG) this week, it's inadequate to include a single African population in any study on health and disease.

Neil Hanchard of Baylor College of Medicine sequenced the genomes of 426 people from 13 African countries and 50 ethnolinguistic groups from across the continent, STAT says. Their work produced what UPenn medical geneticist Kiran Musunuru calls "an unprecedented, in-depth cataloging of the genetic diversity of people across the African continent."

Hanchard's study shows that the different populations in Africa have unique genetic variants, and that some of the variants among those in the 50 African groups that differed most from non-Africans' were
those involved in infectious disease, particularly viral infection, STAT says. 
In a related study presented at ASHG, scientists from UCSF took another look at the reference genome, with the aim of adjusting it to better reflect global genetic diversity, according to STAT. They sequenced 220 genomes from around the world, and found DNA sequences totaling 7 million base pairs that were missing from the reference genome.

"It turns out that we're still missing important pieces," Musunuru tells STAT. "Right now, if you sequence a person's genome, you compare it to that [reference] genome, and anything that doesn't match is thrown out." But those sequences may be important to understanding a whole host of diseases and a different aspect of health.

"Sequencing of hundreds of people from around the world allows us to fill in the blanks, so that in the future we don't throw out that important information when we sequence a patient's genome," Musunuru adds.