‘Platinum’ genome takes on disease

‘Platinum’ genome takes on disease

Disease sites targeted in assembly of more-complete version of the human genome sequence.

http://www.nature.com/news/platinum-genome-takes-on-disease-1.16375

http://www.nature.com/nature/journal/vaop/ncurrent/full/nature13907.html

http://genome.cshlp.org/content/early/2014/11/03/gr.180893.114

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.

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A true platinum sequence will be assembled from just one genome, however, because only then can scientists be sure there are no remaining gaps. To this end, a team led by Richard Wilson at Washington University in St. Louis, Missouri, reported a draft sequence of the entire CHM1 genome earlier this month (K. M. Steinberg et al. Genome Res. http://doi.org/w7b; 2014). Researchers at the firm Pacific Biosciences in Menlo Park, California, are similarly working on the whole CHM1 genome, but are using sequencers that work with longer stretches of uninterrupted DNA, and so produce fewer gaps than typical sequencers. The firm released a draft genome assembly in February. The hope is that the method will speed up the platinum genome’s arrival.

“The chances of actually achieving this, for one genome, are looking much better”, says Deanna Church, a genome scientist at the firm Personalis in Menlo Park. Still, Birney says that the human reference genome is more about “constant improvement” than completion. “For sure, somebody’s going to be fiddling around with this in 10–20 years’ time.”