Chromosome copy number variation detection device based on low-depth high-throughput genome sequencing

Abstract

The invention relates to the technical field of bioinformatics, and particularly discloses a chromosome copy number variation detection device based on low-depth high-flux genome sequencing. The device comprises a detection module, a data quality control module, a data preprocessing module, a data correction and processing module and a judgment module. The data correction and processing module is used for correcting deviations caused by different chromosome baselines by a weighted linear regression model through repeated sequence and group CNV elimination, renormalization, sex chromosome diploidy processing, GC correction and mappability correction, PCA noise reduction, CBS algorithm noise reduction, maternal pollution elimination and the like, and other processing modules are combined to provide the chromosome copy number variation detection device with higher detection accuracy.

Description

technical field

[0001] The invention relates to the technical field of bioinformatics, in particular to a chromosome copy number variation detection device based on low-depth high-throughput genome sequencing. Background technique

[0002] Chromosomal abnormalities are an important cause of spontaneous abortion in the first trimester, with an incidence rate as high as 50%-70%. Among them, the abnormal number of chromosomes accounts for about 96%, and the abnormal structure is only 3-5%. Aneuploidy is the main form of chromosomal abnormality in spontaneous abortion, accounting for more than 86% of chromosomal abnormalities. Examination of chromosomal abnormalities in the miscarriage can not only clarify the cause of the miscarriage, but also guide another pregnancy by combining genetic counseling and assisted reproductive methods. Currently, cell culture and karyotype analysis of flow-through products are important methods for detecting chromosomal abnormalities. However, ...

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