Homologous pseudogene variation detection method

Abstract

The invention provides a homologous pseudogene variation detection method. The method comprises the following steps: constructing a reference gene set according to a latest updated gene sequence; randomly obtaining normal sample original data to create a contrast set; comparing the original data of the normal sample of the reference set with the reference gene set to obtain a comparison result ofthe reference set; carrying out variation detection on each sample in the contrast set, and constructing contrast set variation site frequency data; acquiring actual measurement sample original data,comparing the actual measurement sample data with a reference gene set, and performing variation point detection on an actual measurement sample comparison result to obtain an actual measurement sample variation point detection result; and carrying out site comparison screening on the actually measured sample variation site detection result and the contrast set variation site frequency data to obtain the gene variation site of the actually measured sample. Compared with the prior art, the method can solve the problem of asynchronous updating of the reference genome sequence and the gene sequence, improve the accuracy of gene locus variation detection and shorten the detection period.

Description

technical field [0001] The invention relates to the field of gene detection in biology and precision medicine, in particular to a method for detecting homologous pseudogene variation. Background technique [0002] At present, in the field of biology and precision medicine, when clinical individuals are clinically diagnosed with genetic diseases, individual genetic testing is usually required. Common testing methods are whole genome sequencing (WGS), whole exome sequencing (WES) and target regions. Sequencing (TRS), the relevant analysis process is as follows: 1) After the high-throughput sequencing is completed, obtain the short fragment sequence information of the genome; 2) Sequence comparison with the reference genome, and locate the genome coordinates of each short sequence; 3) Comparison 4) Perform variation detection for each base in the genome and perform genotype evaluation; 5) Finally obtain the individual genome variation detection results. [0003] At present, th...

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Problems solved by technology

[0009] The purpose of the present invention is to provide a method for detecting homologous pseudogene variation, which is used to solve the problem that the currently commonly used reference genome sequence is not synchronized with the updated gene sequence, and at the same time solve the problem of inaccurate variation detection caused by abnormal comparison of homologous regions ; It is also used to solve the problem that the current detection time period is long

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