Deep Insight: Integrating germline and somatic genetic profiles through machine learning to understand esophageal cancer etiology

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The Deep Insight joint project deals with research into the genetic mechanisms underlying the development of esophageal cancer and with improvements to treatment options. This type of cancer has an increasing number of cases in industrialized countries, but is often detected too late and has very little chance of being cured. When it comes to esophageal cancer, a distinction is made between two different carcinomas, of which the so-called esophageal adenocarcinoma (EAC) occurs at all. It is suspected that EAC is related, among other things, to changes in the esophageal mucosa as a result of reflux. An endoscopy of the esophagus is usually carried out to make a diagnosis.

This is where Deep Insight comes in: As part of the project, special analysis software is to be developed and validated using machine learning, artificial intelligence and large omics data sets. This should be able to create the course of EAC preliminary stages. It is planned to make the developed analysis software available to users using an open source approach as part of the bioinformatics cloud de.NBI. If successful, the developed methodology could be easily transferred into everyday clinical practice, so that patients with EAC precursors could be better monitored in the future, even without complex endoscopic monitoring. In addition, the analysis software could be used to determine the best individual treatment option for the respective EAC patient.

Information about the project

Publications: doi: 10.3389/fgene.2023.1217860; doi: 10.1016/j.ebiom.2023.104616; doi: 10.1136/gutjnl-2021-326698; doi: 10.1016/j.csbj.2023.02.024; doi: 10.1158/0008-5472.CAN-22-1492

Contact: Univ.-Prof. Dr. Dominik Heider

Funding reference number: 031L0267A