Homologous pseudogene variation detection method

A gene mutation and mutation technology, applied in the field of biological and precision medicine gene detection, can solve the problems of long detection time period, asynchronous reference genome sequence and updated gene sequence, inaccurate mutation detection, etc. Improve efficiency and improve accuracy

Active Publication Date: 2020-04-28
SUZHOU SMK GENE TECH LTD
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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 t

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  • Homologous pseudogene variation detection method

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Embodiment Construction

[0041] In order to better understand the technical content of the present invention, specific embodiments are given together with the attached drawings for description as follows.

[0042] Aspects of the invention are described in this disclosure with reference to the accompanying drawings, which show a number of illustrated embodiments. Embodiments of the present disclosure are not necessarily intended to include all aspects of the invention. It should be appreciated that the various concepts and embodiments described above, as well as those described in more detail below, can be implemented in any of numerous ways, since the concepts and embodiments disclosed herein are not limited to any implementation. In addition, some aspects of the present disclosure may be used alone or in any suitable combination with other aspects of the present disclosure.

[0043] In order to solve the problem of inaccurate mutation detection caused by asynchronous update of reference genome sequ...

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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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Application Information

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IPC IPC(8): G16B20/20G16B20/30
CPCG16B20/20G16B20/30Y02A90/10
Inventor 梁萌萌余伟师栗海波李珉
Owner SUZHOU SMK GENE TECH LTD
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