Biological information analysis method and device for high-throughput sequencing, equipment and storage medium

A bioinformatics and bioanalysis technology, applied in bioinformatics, informatics, special data processing applications, etc., can solve problems such as rising costs, false positives, and reduced efficiency, and achieve lower detection costs, high accuracy, and improved detection. The effect of accuracy

Active Publication Date: 2017-12-12
广州达安临床检验中心有限公司 +4
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This method of assessing the risk of non-invasive prenatal screening based on the Z-test value of the comparison sequence data, through technical practice, it is generally found that about 1-10% of the critical values ​​are dif

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  • Biological information analysis method and device for high-throughput sequencing, equipment and storage medium
  • Biological information analysis method and device for high-throughput sequencing, equipment and storage medium
  • Biological information analysis method and device for high-throughput sequencing, equipment and storage medium

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[0023] In order to make the object, technical solution and advantages of the present invention clearer, the present invention will be further described in detail below in conjunction with the accompanying drawings and embodiments. It should be understood that the specific embodiments described here are only used to explain the present invention, and do not limit the protection scope of the present invention.

[0024] Unless otherwise defined, all technical and scientific terms used herein have the same meaning as commonly understood by one of ordinary skill in the technical field of the invention. The terms used herein in the description of the present invention are for the purpose of describing specific embodiments only, and are not intended to limit the present invention. As used herein, the term "or / and" includes any and all combinations of one or more of the associated listed items.

[0025] figure 1 A schematic flow chart of a biological information analysis method for ...

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Abstract

The invention discloses a biological information analysis method and device for high-throughput sequencing, equipment and a storage medium. The method in one embodiment comprises the following steps of: obtaining high-throughput sequencing data of a to-be-tested gene sequence; analyzing the high-throughput sequencing data to obtain a gene sequence parameter of the to-be-tested gene sequence; extracting a user information parameter corresponding to the to-be-tested gene sequence; and classifying variable features comprising the gene sequence parameter and the user information parameter through a classification model obtained through training so as to obtain a gene classification result of the to-be-tested gene sequence. According to the method, the detection cost is reduced, and false positive and negative results occurring before can be corrected at the same time, so that the detection correctness is improved.

Description

technical field [0001] The present invention relates to the field of biotechnology, in particular to high-throughput sequencing technology, and in particular to a biological information analysis method for high-throughput sequencing, a biological information analysis device for high-throughput sequencing, a computer device, and a computer storage device. medium. Background technique [0002] With the rapid development of genome high-throughput sequencing technology, it has greatly promoted the development of biomedicine, life science and other fields. At present, high-throughput genome sequencing technology has been applied clinically, such as genetic diagnosis of family genetic diseases, non-invasive prenatal testing (NIPT), preimplantation genetic diagnosis and personalized medicine for complex diseases such as tumors, etc. At the same time, more and more researchers are using high-throughput sequencing for scientific research. [0003] At present, the bioinformatics ana...

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Application Information

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IPC IPC(8): G06F19/20
CPCG16B25/00
Inventor 杨剑锋丁肖凡朱卫东何火强李清荣马淑雯
Owner 广州达安临床检验中心有限公司
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