METHOD AND DEVICE FOR DETECTING CHROMOSOMAL ANEUPLOIDY

摘要

A method and a device for detecting chromosomal aneuploidy are provided. The method includes: obtaining the distribution of the sequencing result of test samples on a reference sequence, i.e., the number of sequence reads falling within each window divided on the reference sequence, wherein the test samples comprise target samples derived from target individuals and control samples derived from normal individuals; calculating the deviation statistic of each target sample in each window; comparing the average value of the deviation statistics on a certain chromosome of the target samples with a corresponding deviation threshold, and determining whether there is a deletion or duplication in the chromosome according to the comparison results, wherein the deviation threshold is set according to the deviation statistics of all normal individuals on the chromosome.

主权项

1. A method for detecting chromosomal aneuploidy, comprising the following steps:
obtaining a distribution of sequencing results of test samples on a reference sequence, wherein the test samples comprise target samples derived from M target individuals and control samples derived from N normal individuals, M and N are positive integers, the sequencing results include a plurality of sequence reads, a plurality of windows are divided on the reference sequence, and the distribution is reported as the number of sequence reads r(i,j) falling within each of the windows, wherein i is the serial number of the window, j is the serial number of the test sample, and i and j are positive integers; calculating the relative sequence number R(i,j)=r(i,j)/rp(j) of each test sample in each of the windows, wherein rp(j) is an average value of r(i,j) of sample j; calculating the deviation statistic Z(i,j)=[R(i,j)−mean(i)]/sd(i) of each target sample in each window, wherein mean(i) is an average value of R(i,j) in window i, and sd(i) is a standard deviation of R(i,j) in window i; and comparing the average value Zp(c,j) of Z(i,j) on chromosome c of the target samples with a deviation threshold of the chromosome c, and determining whether there is a deletion or duplication in the chromosome c according to the comparison results, wherein the deviation threshold is set according to the deviation statistics of all of the N normal individuals on the chromosome c.