Chromosome aneuploid detection method and device based on NGS, medium and equipment

Abstract

The invention discloses a chromosome aneuploid detection method and device based on NGS, a medium and equipment, and relates to the technical field of biomedicine. Comprising the following steps: receiving NGS sequencing data of tumor tissues and normal tissues; preprocessing the NGS sequencing data to obtain an intermediate data file; performing consistency evaluation on the gender and embryonic line SNP by utilizing the intermediate data file; acquiring coverage depth information and SNP genotype information on a to-be-detected sample genome by utilizing the intermediate data file; detecting the purity, ploidy and SCNV fragments of the tumor sample; calculating the SCNV of the chromosome arm level of each tumor sample according to the single tumor sample and the prepared SCNV database; and calculating a final chromosome aneuploid score of each tumor sample based on the SCNV of the sample chromosome arm level. The device, the medium and the equipment are all based on the method. According to the invention, the accuracy of tumor chromosome aneuploid detection is improved.

Description

technical field [0001] The present invention relates to the technical field of biomedicine, and in particular, to an NGS-based chromosomal aneuploidy detection method, device, medium and equipment. Background technique [0002] Next-generation sequencing (NGS) is a high-throughput large-scale parallel sequencing technology, which is a DNA sequencing technology developed based on PCR and gene chips. This technology can obtain gene mutation and chromosomal structural variation information of multiple target regions on the genome at one time at a low cost. [0003] Aneuploidy, an imbalance in the number of chromosomes in cells, is an important feature of tumors found in about 90% of solid tumors. Aneuploidy score, defined as the number of SCNVs at the chromosome arm level in tumor samples, serves as an immune biomarker and can indicate the efficacy of immunotherapy. [0004] At present, there have been literature reports on the calculation of chromosomal aneuploidy score (Ane...

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Problems solved by technology

[0004] At present, there have been reports in the literature on the calculation method of chromosome aneuploidy score (Aneuploidy score) based on next-generation sequencing SCNV data. Due to the existence of SCNV-segment detection methods and non-uniform filtering standards, no tumor purity and ploidy correction, operation The steps are cumbersome and other disadvantages, so that the accurate detection of chromosomal aneuploidy cannot be performed

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