Whole genome variation analysis using single molecule sequencing

Abstract

Discovering the genetic factors associated with common diseases and drug response has proved a daunting challenge. Genotyping has been preferred over DNA sequencing, despite its lower information content, because the latter has been prohibitively expensive. Even accepting this compromise, the scale of whole genome scans has proved unaffordable, despite advances in genotyping technology. This challenge is being addressed by technologies that seek to analyse genomic DNA at the single molecule level, as this offers the potential to re-sequence the genome of an individual human at a cost and throughput that represents five orders of magnitude improvement over conventional sequencing.