NGS-based chromosome balanced translocation detection and analysis system and its application

Abstract

The invention relates to an NGS-based chromosome equilibrium translocation detection and analysis system and application, and belongs to the technical field of gene detection biological information. The detection and analysis system comprises a data acquisition module, a genome comparison module, a sliding cutting module, a short sequence comparison module, a breakpoint analysis module and a result output module. Firstly, reads which cannot be simultaneously compared to a human reference genome at two ends are screened out and cut into continuous short sub-sequences by sliding; the sub-sequences are compared to the human reference genome again, so that the reads sequence originally comprising balanced translocation points can be compared with the human genome through short fragments aftercutting; and through clustering grouping of comparison positions and a correlation covariance weighting algorithm of corresponding sub-sequence numbers, reads of which the two ends are respectively compared with different chromosomes can be quickly screened out, and a balanced translocation breakpoint is accurately positioned, so that a sequence designed by a primer is provided for subsequent Sanger sequencing verification. The application range comprises NIPT, PGS, PGD, common NGS sequencing results and the like.

Description

technical field [0001] The invention relates to the technical field of gene detection biological information, in particular to an NGS-based balanced chromosome translocation detection and analysis system and its application. Background technique [0002] Chromosomal balanced translocation refers to the occurrence of a break in each of the two chromosomes and the exchange of their acentric segments, forming two new derivative chromosomes called reciprocal translocations. It involves reciprocal translocations between homologous and nonhomologous chromosomes. Although reciprocal translocations cause changes in the position of chromosomal fragments, but still retain the total number of genes, it is called balanced translocations. Balanced translocation carriers were detected approximately 10 times more frequently in recurrent abortion couples than in the general population. The miscarriage rate of pregnancy in patients with balanced chromosome translocation is very high, or th...

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Problems solved by technology

However, in this method, the construction of the Chinese library needs to be customized, and the breakpoint cannot be accurately judged; in addition, a deeper sequencing depth is required, which increases the cost

(3) Screening based on the method of finding junction fragments or soft trimmed, soft clipped, but because there is no follow-up algorithm support, follow-up analysis needs to be done manually and cannot be processed in batches, which greatly increases the time

(4) The method based on CNV, but due to the problem of high false positives in the detection of CNV based on NGS

[0005] The above-mentioned traditional methods all have the disadvantages of complex process, low precision, or some cannot be processed in batches, and manual proofreading is required, which takes too much time.

However, in the analysis using NGS detection, due to the excessive number of repetitive regions in the genome, the complexity of NGS comparison increases, resulting in a high false positive rate.

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