Screening method of methylation sequencing fragment
By constructing a new rDNA reference genome and using a combinatorial strategy to mask the rDNA region, the problem of high background noise in liquid biopsy is solved, high-quality rDNA alignment and methylation signal screening is achieved, and the identification accuracy of disease-related signals is improved.
CN119649908APending Publication Date: 2025-03-18SHANGHAI WEIHE MEDICAL LAB CO LTD
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Patent Information
- Application Number
- CN202411695613.1
- Authority / Receiving Office
- CN · China
- Patent Type
- Applications(China)
- Current Assignee / Owner
- Filing Date
- 2024-11-22
- Publication Date
- 2025-03-18
AI Technical Summary
Technical Problem
In liquid biopsy, there are technical difficulties in how to screen out disease-related methylation signals, especially rDNA methylation signals, under large background noise.
Method used
By constructing a new rDNA reference genome, combining the human genome and rDNAconsensus sequence, a combination strategy is used to mask the real rDNA region to achieve high-quality rDNA alignment.
Benefits of technology
It effectively avoids multiple alignment problems, improves the accuracy of rDNA sequence alignment, reduces false positive alignment, improves alignment efficiency, and helps to discover disease-related rDNA methylation markers.
✦ Generated by Eureka AI based on patent content.
Abstract
The invention relates to the field of methylation sequencing, in particular to a screening method of methylation sequencing fragments. The method comprises: 1) using a healthy sample, establishing a signal baseline by constructing an n-order Markov chain model, the healthy sample containing a methylation sequencing result, and a sequencing fragment of the healthy sample originating from an rDNA region; and 2) filtering a to-be-detected sample by using the established signal baseline, the to-be-detected sample containing a methylation sequencing result, and a sequencing fragment of the to-be-detected sample being derived from an rDNA region. According to the method disclosed by the invention, background noise from normal tissues is effectively filtered, and methylation signals (especially rDNA methylation signals) related to diseases are effectively screened out.
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