Method and device for known variation detection based on Bayes testing and Poisson's distribution testing
A technology of Poisson distribution and variation, applied in the field of known variation detection, can solve the problems of lower comparison quality, inability to detect multiple genes and multiple sites at the same time, and inability to detect positional mutations, etc., to reduce false positives and avoid The effect of comparison quality degradation
- Summary
- Abstract
- Description
- Claims
- Application Information
AI Technical Summary
Problems solved by technology
Method used
Image
Examples
Example Embodiment
[0077] Example 1
[0078] The specific parameters used in the detection method of this embodiment are set as:
[0079] Sample DNA: FFPE tissue sample from a female patient with upper left lung adenocarcinoma;
[0080] Sample processing and sequencing data: target region capture and BGISEQ-100 platform sequencing;
[0081] Preprocessing and quality control of sequencing data ;
[0082] Reference genome: human genome reference sequence of version 37.3 (hg19; NCBI Build 37.3) in the NCBI database;
[0083] Sequencing read sequence calculated assuming the existence of known variant sites: Calculated according to the wild-type and variant column data in Table 1 and the reference genome sequence;
[0084] Bayesian test model: (L(M 0 )and with reference to the description above);
[0085] The first threshold: the value is 2;
[0086] Poisson Distribution Test Model: Cumulative Probability Values
[0087] The second threshold: the value is 0.95.
[0088] Statistical var...
PUM
Abstract
Description
Claims
Application Information
- R&D Engineer
- R&D Manager
- IP Professional
- Industry Leading Data Capabilities
- Powerful AI technology
- Patent DNA Extraction
Browse by: Latest US Patents, China's latest patents, Technical Efficacy Thesaurus, Application Domain, Technology Topic.
© 2024 PatSnap. All rights reserved.Legal|Privacy policy|Modern Slavery Act Transparency Statement|Sitemap