Informatics Approaches to Uncover the Molecular Mechanisms of Endometriosis in Clinical Patients

Endometriosis, a complex and common gynecological disorder affecting 5–10% of reproductive-age women, is characterized by the growth of endometrial tissue outside of the uterine cavity. Accumulating evidence indicates that various epigenetic aberrations are associated with endometriosis. In our study, we have methylation data and clinical information on 80 patients (36 controls and 44 cases) from a clinical study. Our objectives are to identify the genomic regions associated with endometriosis and identify the specific genes associated with endometriosis after adjusting for potential confounding variables. We have developed a bioinformatics methylation data analysis pipeline in-house using several open source tools including FastQC, Bowtie2 and R packages. In this seminar, the informatics approach for the data analysis will be presented.