On Thursday, October 9, 2025, at 14:00, Ms. Izabella Gogaeva of the postgraduate
program “Data Science and Information Technologies”, track on “Bioinformatics – Biomedical Data Science”, will present her MSc thesis titled:
Integrative Deep-Learning and Transcriptome-Resolved Framework for Discovery of Cryptic Splicing Variants in Breast Cancer
Abstract
Alternative splicing is a major source of transcriptomic diversity and is often disrupted in cancer. This work introduces an integrative framework that combines deep learning–based predictions from SpliceAI with isoform-level RNA-seq analysis to identify cryptic and dysregulated splicing events in breast cancer.
Using whole-genome and RNA-seq data from 89 TCGA-BRCA patients, candidate splice-altering variants were prioritized (Δ ≥ 0.2) and linked to changes in transcript structure and expression. Results showed that indels more frequently corresponded to differential isoform expression than SNVs, particularly in loss-type events associated with transcript downregulation.
This study highlights the potential and current limitations of integrating predictive and transcriptomic evidence to interpret noncoding variants in cancer.
EXAMINATION COMMITTEE:
Dr. Theodoros Dalamagas, Research Director, Information Management Systems Institute, Athena Research Center
Dr. George Georgakilas, Scientific Associate, ATHENA Research Center
Prof. Αrtemis G. Hatzigeorgiou, Professor of Bioinformatics, Department of Computer Science and Biomedical Informatics, University of Thessaly
9 October 2025
14:00 – 15:00 (GTB)
Join Zoom Meeting
https://us05web.zoom.us/j/82549680759?pwd=1aUUWbiN120Rbile77gEkIoyaVnraS.1
Meeting ID: 825 4968 0759
Passcode: 1i9wU1
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