基于多组学整合的疾病特异性的数量性状位点识别方法
By using a multi-omics integration approach, whole-genome sequencing and molecular phenotypic data were obtained, and effect estimates of association pairs were screened and calculated to identify Parkinson's disease-specific pathogenic genetic variants. This solved the problem of the inability to accurately identify pathogenic genetic variants of Parkinson's disease in existing technologies and enabled the accurate identification of the regulatory effects of genetic variants.
Patent Information
- Authority / Receiving Office
- CN · China
- Patent Type
- Patents(China)
- Current Assignee / Owner
- XIANGYA HOSPITAL CENT SOUTH UNIV
- Filing Date
- 2026-04-20
- Publication Date
- 2026-07-17
AI Technical Summary
Current technologies cannot accurately identify disease-specific pathogenic genetic variations in Parkinson's disease, and it is difficult to reveal the differences in the regulatory effects of genetic variations between Parkinson's patients and healthy individuals.
By using a multi-omics integration approach, whole-genome sequencing data and molecular phenotypic data were obtained, the significance probability values of association pairs were determined, consistent association pairs between healthy and diseased subjects were screened, effect estimates were calculated, and quantitative trait loci associated with Parkinson's disease were identified.
Accurately identify pathogenic genetic variants related to Parkinson's disease, eliminate false positive interference, ensure the reliability of the genetic basis, and reveal the differences in the regulatory effects of genetic variants between Parkinson's patients and healthy individuals.
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Figure CN122067599B_ABST