Closing In On Personal Genome Sequencing

The personal genome is coming. As the time and money required to sequence the DNA in an individual’s genome continue to decrease, the day draws nearer when genome sequencing will be routine. Using commercially available single-molecule DNA-sequencing instruments and reagents from Helicos BioSciences and Illumina, Stephen R. Quake (a cofounder of Helicos), Dmitry Pushkarev, and Norma F. Neff of Stanford University sequenced Quake’s genome in four data collection runs on a single instrument (Nat. Biotechnol., DOI: 10.1038/nbt.1561). The team acquired sufficient data on the genome without the need to clone or amplify the DNA first. Each run took a week, so there’s still room for speeding up the analysis, the researchers note. They identified some 2.8 million single-nucleotide polymorphisms, which are individual base changes that are associated with differences between individuals or with disease states, with a less than 1% false-positive rate. The achievement suggests that sequencing, once the domain of large sequencing centers, is now within reach of individual laboratories.