Traditional sequencing is often likened to making a smoothie: researchers blend a bunch of cells, obtain an average sequence, and draw conclusions on the ingredients that comprise the slush. More recently, scientists have gained the ability to perform single-cell sequencing, which can reveal rare variations between cells and the evolution of cell lineages. But current methods require reading the genome in short sections and therefore often fail to capture complex repetitive regions, which scientists are increasingly linking to health and disease. Long-read technologies could overcome this pitfall; however, their methods require much more DNA than can be extracted from a single cell. Single-cell, long-read sequencing has remained frustratingly out of reach.
That is, until now. By combining “two very innovative approaches”—a cutting-edge DNA amplification technique with the latest advances in DNA sequencing—a team of scientists have applied long-read technology to single cells, says Alexander Hoischen, a researcher of genomic technologies ...
