Misha Angrist in Undark Magazine:
“It sounds as if the donor knows who he is,” wrote Francis Collins, former director of the then-called National Center for Human Genome Research, in a 1996 email. “That’s not the way it should have been done.”
This quote appears in Undark and STAT’s recent, deeply reported exposé on how the first human genome was sequenced in the late 1990s and early 2000s by the Human Genome Project. Collins was referring to the provenance of one of the initial DNA samples donated for the project, but I reckon that he would have objected just as vehemently had any of the donors been able to spot their own DNA within the final “reference” genome. This includes one prominent donor: The subject of the Undark/STAT story, an anonymous man from Buffalo, New York, known as RP11, who wound up being the project’s primary DNA source. Despite signing a consent form saying the researchers expected that no single person’s DNA would account for more than 10 percent of the reference genome, RP11’s DNA made up 74 percent of that genome.
Enjoying the content on 3QD? Help keep us going by donating now.