Disclosed is a method to achieve digital quantification of DNA (i.e., counting differences between identical sequences) using direct shotgun sequencing followed by mapping to the chromosome of origin and enumeration of fragments per chromosome. The preferred method uses massively parallel sequencing,...http://www.google.ca/patents/US8195415?utm_source=gb-gplus-sharePatent US8195415 - Noninvasive diagnosis of fetal aneuploidy by sequencing
