METHOD AND DEVICE FOR DETECTING CHROMOSOMAL ANEUPLOIDY

摘要

A method and a device for detecting chromosomal aneuploidy are provided. The method includes: acquiring the distribution of the sequencing results of the 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; then calculating the deviation statistic of each target sample in each window; comparing the average value of the deviation statistic 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 statistic of all normal individuals on the chromosome.