Chromosome stability evaluation method and device, terminal equipment and storage medium based on liquid biopsy

Abstract

The present invention provides a liquid biopsy-based chromosome stability evaluation method and device, a terminal device and a storage medium, wherein the chromosome stability evaluation method includes: respectively capturing and sequencing a plasma sample to be tested and a selected reference plasma sample, and then The Bam file is obtained by preprocessing; the number of reads at the bin level of the plasma sample to be tested and the reference plasma sample are counted according to the Bam file; the chromosome stability of the plasma sample to be tested is scored according to the number of reads at the bin level; the plasma to be tested is scored according to the score. Chromosomal stability of the samples was evaluated. It obtains a chromosomal stability score based on the number of reads at the bin level, and then evaluates the chromosomal stability of the plasma sample to be tested according to the score, improving the robustness and sensitivity of the detection.

Description

technical field [0001] The invention relates to the field of biomedical technology, in particular to a method and device for evaluating chromosome stability based on liquid biopsy, terminal equipment and a storage medium. Background technique [0002] Early screening, early diagnosis, and timely treatment are effective ways to reduce cancer mortality. The European Society for Medical Oncology (ESMO) pointed out that the incidence and mortality of cancer in Western countries are decreasing year by year, mainly due to early screening of cancer, early benign adenoma resection and early treatment of cancer lesions. Discovering and utilizing tumor-specific biomarkers, relying on high-precision detection and evaluation methods, targeting the organ of tumor origin and implementing treatment in the early stage of tumor occurrence are the key factors to improve the effect of tumor treatment and prolong the life of patients. Early screening and diagnosis of tumors has far-reaching so...

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Problems solved by technology

[0013] For tumor screening, the traditional auxiliary methods mainly include tumor marker detection, medical imaging examination, endoscopy and other technical means. Although they can assist medical diagnosis to a certain extent, they all have certain technical limitations, such as: 1) There are a large number of commonly used tumor markers, but the diagnostic sensitivity and specificity are not ideal, which may easily lead to false positives or false negatives; 2) Imaging examinations can only detect tumor lesions with a diameter of more than 1 cm, and the time of discovery is basically reached Middle-advanced stage; 3) Endoscopic examination is an invasive examination, with strong discomfort and low acceptance for patients, and it is only applicable to some cancer types such as gastric cancer and colon cancer; 4) Pathological diagnosis is the gold standard for cancer diagnosis. However, a needle biopsy is required and is generally used to confirm the diagnosis in patients with suspected cancer

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