Chromosome abnormality detection device

Abstract

The invention discloses a chromosome abnormality detection device. Aiming at solving the problems that conventional chromosome abnormality detection and analysis are based on a reads number statistical model, can only remove duplicate reads compared in the same initial position of a genome but cannot remove mutually overlapped reads with different initial positions, the device can effectively remove the duplicate reads and overlapping areas caused by amplification preference of a whole genome of a single cell by introduction of a sequence coverage statistical model, data uniformity is remarkably improved, then data noise is reduced, detection rate of positive specimens is increased, and false positive rate is reduced.

Description

technical field [0001] The invention relates to data processing technology, in particular to a chromosome abnormality detection device. Background technique [0002] In recent years, with the increasing number of patients receiving assisted reproduction, a large number of clinical findings have shown that in the process of assisted reproduction, embryos of some high-risk couples are prone to repeated implantation failures or unexplained spontaneous abortions. The overall live birth rate of IVF Less than 30%, and studies have found that chromosomal abnormalities in embryos are the main reason for the failure of IVF. Therefore, preimplantation chromosomal abnormality detection of embryos, and then selection of healthy embryos for implantation, can significantly improve the pregnancy rate and live birth rate of IVF. [0003] Preimplantation chromosomal abnormality detection requires single-cell amplification of trophectoderm cells or blastomeres of blastocyst-stage embryos to ...

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Problems solved by technology

[0002] In recent years, with the increasing number of patients receiving assisted reproduction, a large number of clinical findings have shown that in the process of assisted reproduction, embryos of some high-risk couples are prone to repeated implantation failures or unexplained spontaneous abortions. The overall live birth rate of IVF Less than 30%, and studies have found that chromosomal abnormalities in embryos are the main reason for the failure of IVF

The above analysis process can only remove duplicate reads that are aligned to the same starting position in the genome in the processing method of removing duplicate reads. It is not effective for reads that have different starting positions but overlap with each other. Removed

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