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US 2020/0286622 A1Published application
Data analysis methods and systems for diagnosis aids
AssigneesGachon University of Industry-Academic Cooperation Foundation, Gil Medical Center
InventorsSungwon Jung, Sora Kim
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Abstract
The present invention relates to a data analysis method and system for disease diagnosis aid, and more specifically, to a technique and system capable of providing analysis results through integrated analysis of clinical, MRI images, and genotypic data to aid in disease diagnosis. The method includes receiving medical data of a subject; selecting disease-related data using the medical data; and calculating the disease probability according to the selected disease-related data. The medical data provides a configuration including clinical records, genetic and genetic variants, and MRI.
Claims4
A data analysis method for aiding disease diagnosis, comprising:
- receiving, by a processor of a computer, medical data of a subject;
- selecting, by the processor, disease-related data using the medical data;
- and
- calculating, by the processor, a disease probability according to the selected disease-related data,
- wherein the medical data comprises at least two or more of a) a clinical record, b) genes and genetic variants, or c) MRI data, and
- wherein a) when the medical data is the clinical record, the calculating of the disease probability comprises:
- evaluating, by the processor, a phenotype-based similarity of the clinical information;
- and
- calculating, by the processor, the disease probability according to the phenotype-based similarity,
- wherein b) when the medical data is the genes and gene variants, the selecting of the disease-related data comprises selecting a genome variant having a possibility of disease association among all genes and gene variants of the subject, and the calculating of the disease probability comprises:
- calculating, by the processor, a probability that the genes and gene variants selected by the processor are disease-related information;
- calculating, by the processor, an average rank ri_1 of the selected genes according to the probability;
- calculating, by the processor, a disease gene probability P_1 according to a number of disease candidate genes of the subject;
- and
- calculating a normalized probability (1−(ri_1−1)/max (ri_1)) of the disease gene probability P_1,
- wherein c) when the medical data is the MRI data, the selecting of the disease-related data comprises selecting, by the processor, a volume value of the MRI, a white matter damage volume value, a cortical and subcortical region T2 high signal damage volume value, and a myelination index as selected data, and the calculating of the probability comprises:
- calculating, by the processor, the selected data and data of MRI of a previously stored disease-specific target case as a vector-based similarity percentile;
- calculating, by the processor, an average value of the vector-based similarity percentiles;
- and
- calculating, by the processor, a similarity average rank ri_2 and a normalized similarity value 1−(ri_2−1)/max (ri_2) between an input case and comparison target data based on the average value of the similarity percentiles.
17 more elements
A data analysis system for aiding disease diagnosis, comprising:
- an input unit that receives medical data of a subject;
- a selection unit that selects disease-related data using the medical data;
- and
- a disease detection unit that calculates a disease probability according to the selected disease-related data,
- wherein the medical data comprises at least two or more of a) clinical records, b) genes and genetic variants, or c) MRI data,
- wherein a) when the medical data is a clinical record, the disease detection unit evaluates a phenotype based on similarity of the clinical information, and calculates a disease probability according to the similarity,
- wherein b) when the medical data is the genes and gene variants, the selection unit selects a gene or a gene variant having a possibility of disease association among all genes and gene variants of the subject,
- and the disease detection unit calculates a probability that the selected gene or gene variant are disease-related information, calculates an average rank ri_1 of the selected gene according to the probability, calculates a disease gene probability P_1 according to a number of disease candidate genes of the subject, and calculates a normalized probability (1−(ri_1−1)/max (ri_1)) of the disease gene probability P_1,
- wherein c) when the medical data is MRI data, the selection unit selects a volume value of the MRI, a white matter damage volume value, a cortical and subcortical region T2 high signal damage volume value, and a myelination index as selected data,
- and the disease detection unit calculates the selected data and data of MRI of a previously stored disease-specific target case as a vector-based similarity percentile, calculates an average value of the similarity percentiles, and calculates a similarity average rank ri_2 and a normalized similarity value 1−(ri_2−1)/max (ri_2) between an input case and comparison target data based on the average value of the similarity percentiles.
7 more elements
Dependencies are inferred from the claim text.