A Data Mining Approach for Biomarker Discovery Using Transcriptomics in Endometriosis
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This study analyzed transcriptomics data from endometriosis patients and controls, identifying five candidate genes as potential biomarkers using data mining and decision tree algorithms for improved diagnostic prediction.
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Abstract
Endometriosis is a complex and common gynecological disorder affecting 5-10% of reproductive age women. Due to the lack of definitive diagnostic symptoms and expensive invasive procedures for diagnosing endometriosis, the average time for the diagnosis can be up to 10 years. This diagnostic latency has a very significant impact on endometriosis patients, and early diagnosis is desired in order to increase quality of life. In this study, we analyzed 38 RNA-seq transcriptomics samples (16 endometriosis and 22 controls) and identified genomic signatures as potential biomarkers. We applied innovative data mining approaches including a combination of a normalization techniques, generalized linear model (GLM) for identifying the differentially expressed genes and a decision tree algorithm for constructing models with higher predictive performance. A total of 5 candidate genes were identified as potential biomarkers of endometriosis, which outperformed the results from the Biosigner tool using a leave-one-out cross-validation technique. Our data mining approach can successfully distinguish the endometriosis patients from the non-endometriosis and can be potentially used as a prediction-based diagnostic tool for other diseases in future.
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Cites (4)
- Retrograde menstruation in healthy women and in patients with endometriosis. 1984
- Delay in the diagnosis of endometriosis: a survey of women from the USA and the UK 1996
- Experimental Murine Endometriosis Induces DNA Methylation and Altered Gene Expression in Eutopic Endometrium1 2008
- Transcriptional Activation of Steroidogenic Factor-1 by Hypomethylation of the 5′ CpG Island in Endometriosis 2007
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References (13)
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Cited by (3)
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