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Geneticists have a dirty little secret. More than a decade after the official completion of the Human Genome Project, and despite the publication of multiple updates, the sequence still has hundreds of gaps — many in regions linked to disease. Now, several research efforts are closing in on a truly complete human genome sequence, called the platinum genome.
“It’s like mapping Europe and somebody says, ‘Oh, there’s Norway. I really don’t want to have to do the fjords’,” says Ewan Birney, a computational biologist at the European Bioinformatics Institute near Cambridge, UK, who was involved in the Human Genome Project. “Now somebody’s in there and mapping the fjords.”
The efforts, which rely on the DNA from peculiar cellular growths, are uncovering DNA sequences not found in the official human genome sequence that have potential links to conditions such as autism and the neuro-degenerative disease amyotrophic lateral sclerosis (ALS).
In 2000, then US President Bill Clinton joined leading scientists to unveil a draft human genome. Three years later, the project was declared finished. But there were caveats: that human...