Agilent Technologies, Inc.
USE OF OFF-TARGET SEQUENCES FOR DNA ANALYSIS

Abstract:

The present teachings concern a method for determining the presence or absence of a fetal chromosomal aneuploidy and/or loss of heterozygosity (LOH) in a biological sample obtained from a pregnant female, the method comprising: obtaining sequence information indicative of targeted-capture massively parallel sequencing of the biological sample comprising both maternal and fetal nucleic acids; determining the amount of off-target reads obtained from said targeted capture massively parallel sequencing; and deriving from said off-target read counts information for determining the absence or presence of said aneuploidy or LOH.