Flagrant flaws in 'the book of life'
The human reference genome, nearly two decades old by now and a product of the $2.7 billion Human Genome Project, is often dubbed "the book of life" or the "operating manual for Homo sapiens." But truth is, it's often an inaccurate reference by this point, leading at times to misleading conclusions. Take the case of a little boy suspected to have a rare disease called Baratela Scott syndrome: When scientists attempted to compare his sequences against the reference, they came up short. The code differed dramatically in more than one area.
"The reference genome was a human triumph, but when it was done people weren't thinking that much about population-geographic genetic variation," a Yale bioinformatics professor told STAT's Sharon Begley. "One of its problems it's very European-biased, which means that an African has many more differences from the reference than a European does."
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"The reference genome was a human triumph, but when it was done people weren't thinking that much about population-geographic genetic variation," a Yale bioinformatics professor told STAT's Sharon Begley. "One of its problems it's very European-biased, which means that an African has many more differences from the reference than a European does."
Read more.
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