One Is All It Takes

For all the advances in genomic sequencing, an individual's haplotype is sometimes difficult for researchers to study, says the Technology Review's Emily Singer. But two new papers in Nature Biotechnology from the labs of Jay Shendure at the University of Washington and Stephen Quake at Stanford show the inroads researchers are making into the problem — Shendure by sequencing DNA from single chromosomes in specially-selected pools and Quake by physically separating the chromosome pairs and sequencing each strand of DNA individually. Shendure's team amplified 40,000-letter stretches of DNA randomly sampled from individual chromosomes. And Quake's team used microfluidic technology, which they've developed for separating and analyzing single cells, Singer says. They've both said that having haplotype information will have "an enormous impact on human genetics, helping not only to diagnose and understand the genetic basis of some diseases but also to track the evolution of our species from primate ancestors," Singer writes.