08296076 is referenced by 26 patents and cites 593 patents.

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, which can produce tens of millions of short sequence tags in a single run and enabling a sampling that can be statistically evaluated. By counting the number of sequence tags mapped to a predefined window in each chromosome, the over- or under-representation of any chromosome in maternal plasma DNA contributed by an aneuploid fetus can be detected. This method does not require the differentiation of fetal versus maternal DNA. The median count of autosomal values is used as a normalization constant to account for differences in total number of sequence tags is used for comparison between samples and between chromosomes.

Title
Noninvasive diagnosis of fetal aneuoploidy by sequencing
Application Number
13/452083
Publication Number
8296076 (B2)
Application Date
April 20, 2012
Publication Date
October 23, 2012
Inventor
Stephen R Quake
Stanford
CA, US
Hei Mun Christina Fan
Fremont
CA, US
Agent
Peters Verny
David J Aston
Assignee
The Board of Trustees of the Leland Stanford Junior University
CA, US
IPC
G01N 33/48
View Original Source