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A dna complex structure variation detection method

A technology of complex structure and detection method, applied in the fields of hybridization, genomics, instruments, etc., can solve the problems of complex structure variation detection, chromosome structure variation technology is slow and unable to avoid obtaining wrong information, save time and cost, and improve accuracy Effect

Active Publication Date: 2020-09-29
志诺维思(北京)基因科技有限公司
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  • Abstract
  • Description
  • Claims
  • Application Information

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Problems solved by technology

[0003] The purpose of the present invention is to provide a DNA complex structural variation detection method to solve the problem that the existing chromosome structural variation technology is slow and unable to detect complex structural variation

Method used

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  • A dna complex structure variation detection method
  • A dna complex structure variation detection method
  • A dna complex structure variation detection method

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Embodiment 1

[0037] like figure 1 As shown, a DNA complex structure variation detection method disclosed in this embodiment includes: detecting the DNA sequence of a tumor sample to obtain a sample sequence; comparing the sample sequence with the reference sequence of normal reference sample DNA; image 3 As shown, when the sample sequence is compared with the reference sequence of the normal reference sample DNA, there is an abnormal sequence in the sample sequence that fails to be compared; the corresponding position of the abnormal sequence compared to the normal reference sequence is determined as the breakpoint BP1; according to the normal reference sequence Sort the breakpoints and determine the sequence pairs of breakpoints (H' 1 , T′ 1 ) and the head sequence pair of the abnormal sequence (H 1 ,T 1 ) and the tail sequence pair (H 2 ,T 2 ); the head site H of the head sequence pair of the abnormal sequence on the sample sequence 1 Tail site T paired with tail sequence 2 Align...

Embodiment 2

[0039] like figure 1 As shown, a DNA complex structure variation detection method disclosed in this embodiment includes: detecting the DNA sequence of a tumor sample to obtain a sample sequence; comparing the sample sequence with the reference sequence of normal reference sample DNA; Figure 4 As shown, when the sample sequence is compared with the reference sequence of the normal reference sample DNA, there is a missing sequence in the sample sequence; the head and tail of the missing sequence are determined as breakpoints when the missing sequence is compared to the sequence segment; according to the normal reference sequence and the sample sequence Detection order Sort the breakpoints BP1 and BP2 and determine the breakpoint sequence pair (H' 1 , T′ 1 ) and (H' 2 , T′ 2 ) and the sequence pair corresponding to the missing sequence on the sample sequence (H 1 ,T 1 ); the head site H of the corresponding site of the deletion sequence on the sample sequence 1 with tail p...

Embodiment 3

[0041] like figure 1 As shown, a DNA complex structure variation detection method disclosed in this embodiment includes: detecting the DNA sequence of a tumor sample to obtain a sample sequence; comparing the sample sequence with the reference sequence of normal reference sample DNA; Figure 5 As shown, when the sample sequence is compared with the reference sequence of the normal reference sample DNA, an abnormal sequence that fails to be compared appears; the head and tail of the sequence segment that this abnormal sequence is compared to the normal reference sequence are determined as breakpoints; according to The detection order of the normal reference sequence and sample sequence Sort the breakpoints BP1 and BP2 and determine the breakpoint sequence pair (H' 1 , T′ 1 ) and (H' 2 , T′ 2 ) and the head sequence pair of the abnormal sequence (H 1 ,T 1 ) and the tail sequence pair (H 2 ,T 2 ); the head site H of the head sequence pair of the abnormal sequence on the sa...

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Abstract

The invention discloses a DNA (desoxyribonucleic acid) complex structure variation diagnosis method. 16 chromosome structure variation types are designed, and a corresponding judgment model is designed by aiming at each variation type. Comparison information is directly obtained in a sequencing data comparison file. Compared with the prior art, the method omits sequence re-splicing and re-comparing parts, DNA complex structure variation detection can be quickly finished, and time cost is saved. Meanwhile, since information required for deducing the variation type is fully obtained in the comparison, the problem that re-comparison information can not be completely obtained and wrong information is obtained in a traditional process can be avoided, and chromosome structure variation detectionaccuracy is improved.

Description

technical field [0001] The invention relates to the technical field of gene detection of tumor cells, in particular to a detection method for complex DNA structure variation. Background technique [0002] Because the existing detection technology of chromosome structure variation adopts the traditional simple structure variation type, it lacks the necessary information collection and judgment work when looking for breakpoints, and does not classify complex variation types. For example, DELLY and other chromosome structure variation detection software can detect There are only five types of structural variation. When judging the type of structural variation, it takes a lot of time and computing resources to re-acquire breakpoint-related information. This traditional process of judging structural variation not only results in high time and resource costs, but also affects the detection accuracy of structural variation. Therefore, complex structural variation detection is not...

Claims

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Application Information

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Patent Type & Authority Patents(China)
IPC IPC(8): G16B20/20G16B30/00
CPCG16B20/00G16B25/00
Inventor 张忠波郝伶童尹龙辉曹丽华凌少平
Owner 志诺维思(北京)基因科技有限公司
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