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Method and kit for detecting mutational load of human genome based on high-throughput sequencing

A mutation load and genome technology, applied in the field of biological gene detection, can solve the problems of long time, low sensitivity, large human exome, etc., and achieve high consistency.

Pending Publication Date: 2017-11-10
3D BIOMEDICINE SCI & TECH CO LTD
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  • Summary
  • Abstract
  • Description
  • Claims
  • Application Information

AI Technical Summary

Benefits of technology

This patented technology allows researchers to detect changes caused by genetic material or other factors such as environmental stressors without having access their entire genomes through sequence analysis methods like Xpert Mapping (Xpert). By selecting certain areas where there may be any modifications made during DNA synthesis process, this technology can accurately identify which parts were modified at each step leading up to new cancer cell formation. It also uses two sample pairs instead of one single sample pair per patient's body, resulting in less data needed compared to traditional techniques. Overall, it provides technical benefits over existing technologies due to its ability to efficiently analyze large amounts of genomic sequences quickly while maintaining high accuracy levels.

Problems solved by technology

Technological Problem: Immunogenetic Medicine's use faces challenging issues compared to existing therapies like chemo/immune therapeutinoid agents or gene editing treatments. These limitations include lack of objective measurement results, difficulty in identifying relevant targets, poor progene identification accuracy, and potential false negative effects caused by small changes over multiple individuals during testing. Overall, these technical problem addressed by this patented innovative approach involves improving upon their effectiveness towards various diseases without relying solely on single analysis techniques.

Method used

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  • Method and kit for detecting mutational load of human genome based on high-throughput sequencing
  • Method and kit for detecting mutational load of human genome based on high-throughput sequencing
  • Method and kit for detecting mutational load of human genome based on high-throughput sequencing

Examples

Experimental program
Comparison scheme
Effect test

Embodiment 1

[0087] Example 1 Design and synthesis of 0.8Mb region capture probe

[0088] Design and synthesize multiple capture probes for different target regions on the human genome, and synthesize capture probes according to the sequence of the target regions. The collection of all capture probes can cover the 0.8Mb coding exon region and exon region of the human genome Containing junction region; the capture probe is synthesized according to the target region exon region and exon-intron junction region sequence with a length of 120bp, including a total of 6686 probes, and the probes cover the coding region of the human genome end-to-end Exon 0.8Mb target region, all probes are biotin-labeled; the capture probe set is unique; the target region is shown in Table 2; the capture probe design example is SEQ ID NO in the sequence listing : shown in 1-275; the capture probe design and synthesis method:

[0089] (1) Determine the exon region and exon-intron junction region of each target reg...

Embodiment 2 2

[0096] Example 2 Design and Synthesis of 1.2Mb Region Capture Probe

[0097] Design and synthesize multiple capture probes for different target regions on the human genome, and synthesize capture probes according to the sequence of the target regions. The collection of all capture probes can cover the 1.2Mb coding exon region and exon region of the human genome Containing junction region; the capture probe is synthesized according to the target region exon region and exon-intron junction region sequence with a length of 120bp, including a total of 10333 probes, and the probes are connected end to end to cover the coding region of the human genome Exon 1.2Mb target region, all probes are biotin-labeled; the capture probe set is unique; the target region is shown in Table 3; the capture probe design example is SEQ ID NO in the sequence listing :276-550.

[0098] The capture probe design and synthesis method are the same as in Example 1.

[0099] Table 3 Target area

[0100] ...

Embodiment 3 4

[0102] Example 3 Design and Synthesis of 2.4Mb Region Capture Probe

[0103] Design and synthesize multiple capture probes for different target regions on the human genome, and synthesize capture probes according to the sequence of the target regions. The collection of all capture probes can cover the 1.2Mb coding exon region and exon region of the human genome Containing junction region; the capture probe is synthesized according to the target region exon region and exon-intron junction region sequence with a length of 120bp, and the probes are connected end to end to cover the 2.4Mb target region of the exon in the coding region of the human genome, A total of 21108 probes are included, all of which are labeled with biotin; the set of capture probes is unique; the target region is shown in Table 4; the design of the capture probes is for example SEQ ID NO in the sequence listing : shown in 551-825; the capture probe design and synthesis method are the same as in Example 1. ...

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Abstract

The present invention relates to the field of biological gene technology detection, and specifically relates to a method and a kit for detecting mutational load of human genome based on high-throughput sequencing. The method for detecting the mutational load of the human genome based on high-throughput sequencing is as follows: extracting a genomic DNA double stranded nucleic acid sample from a blood and tissue sample, loading the genomic DNA double stranded nucleic acid sample onto a machine for sequencing the determination area 0.8-2.4Mb of the sample to obtain a nucleic acid sequence of the blood and tissue sample, performing automatic processing on the obtained nucleic acid sequence, and calculating the number of mutation sites in the tissue sample according to the formula of mutational load = the total number of mutations in the determination area of the sample / the size of the determination area of the sample to obtain the number of the mutational load. The specific area is selected for target sequencing, double samples are used for paired detection, sequencing depth is simultaneously increased, sequencing accuracy and sensitivity can be improved, and the required amount of data for the sample is small. The present invention also provides the kit for detecting the mutational load of the human genome used for the method.

Description

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Claims

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Application Information

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Owner 3D BIOMEDICINE SCI & TECH CO LTD
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