A chromosome aneuploidy detection system suitable for single cells and its application

Abstract

The invention belongs to the technical field of genetic engineering, and in particular relates to a single-cell chromosome aneuploidy detection system and its application. The detection system includes a window division module, a segment division module, a segment copy rate calculation module, and a segment aneuploidy judgment module. The detection system uses up to 700k reads / sample, and can detect chromosome deletion / duplication of more than 5Mb in the sample, with an accuracy rate of up to 99.9%, reducing the depth of sequencing and reducing costs.

Description

technical field [0001] The invention belongs to the technical field of genetic engineering, and in particular relates to a single-cell chromosome aneuploidy detection system and its application. Background technique [0002] Aneuploidy refers to the absence or addition of one or several chromosomes in euploid chromosomes. Generally, gametes with abnormal number of chromosomes are formed due to a pair of homologous chromosomes not separating or separating in advance during meiosis. These gametes combine with each other or with normal gametes to produce various aneuploid cells. In addition, aneuploid cells are also produced during somatic cell division, such as tumor cells with a very high mutation rate. [0003] Aneuploid chromosomes are closely related to some human genetic diseases. The most common ones are Down syndrome, with an incidence of about 1 / 800, which is caused by an extra chromosome 21, and trisomy 13 and trisomy 18, which are caused by an extra chromosome 13 a...

AI Technical Summary

Problems solved by technology

For the detection of aneuploidy in embryos, although some detection methods based on next-generation sequencing technology have emerged, they are not perfect in terms of detection speed, operational complexity, and cost.

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