Method and device for detecting tumor mutational load by using high-throughput sequencing data

Abstract

The invention discloses a method and device for detecting a tumor mutational load by using high-throughput sequencing data. The method comprises the steps that a to-be-detected sample is pretreated and a DNA is extracted; according to a target area capture principle, a probe is used for capturing tumor related genes; sequencing is carried out through a high-throughput method to obtain sequencing information; low-quality sequences are filtered out, a checkout process is used for detection, the checkout process comprises that a high-throughput sequencing sequence is compared to a reference genome by using a comparison software, a non-compared sequence forms a soft truncation, according to the compared position, sorting is carried out, and an index is established; mutation detection is carried out on a compared sequence, the detected mutation is annotated by using a RMSK database, a repetitive area is removed on the annotation, driver genes and same sense mutation are filtered, and the number of the filtered somatic cell mutations is calculated to determine the sample tumor mutational load. By applying the technical scheme, the detection precision is higher, and the effect is better.

Description

technical field [0001] The present invention relates to the field of biomedical technology, in particular to a method and device for detecting tumor mutation load by using high-throughput sequencing data. Background technique [0002] In tumor samples, various somatic mutations often lead to the development of tumors, so it is important to assess the number of mutations, that is, the total number of single-nucleotide mutations and insertion / deletion mutations per megabase. [0003] Tumor mutation burden is usually assessed by extracting DNA from tumor samples, capturing the human whole exome, performing high-throughput sequencing, and calculating single-nucleotide mutations and insertions / deletions per megabase in somatic mutations The total number of mutations determines the tumor mutational burden status. [0004] The currently commonly used tumor mutation burden detection method is the strategy proposed by Lawrence's team in Nature in 2015, which judges the tumor mutatio...

AI Technical Summary

Problems solved by technology

However, due to the low sequencing depth, this method often misses some important somatic mutations, and does not remove driver gene mutations and synonymous mutations in the calculation

The above judgment methods often lead to false positives and false negatives

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