Machine Learning for Detecting and Analyzing Chromoanagenesis Events

Roni Rasnic*, Michal Linial

*Corresponding author for this work

Research output: Chapter in Book/Report/Conference proceedingChapterpeer-review

Abstract

A comprehensive analysis of chromoanagenesis pan-cancer features is crucial for a broad and deep understanding of the phenomena. In this chapter, we describe a cancer-type agnostic machine-learning algorithm for detecting chromoanagenesis. We leveraged data from The Pan-Cancer Analysis of Whole Genome (PCAWG) and The Cancer Genome Atlas (TCGA) to construct and test a predictive algorithm for chromoanagenesis detection based on CNA data, with an accuracy of 86%. This algorithm was applied to analyze data from over 10,000 TCGA cancer patients. The analysis identified cancer-type specific chromoanagenesis characteristics and revealed distinct sets of genes impacted by chromoanagenesis versus non-chromoanagenesis tumorigenesis.

Original languageEnglish
Title of host publicationMethods in Molecular Biology
PublisherHumana Press Inc.
Pages291-310
Number of pages20
DOIs
StatePublished - 2025

Publication series

NameMethods in Molecular Biology
Volume2968
ISSN (Print)1064-3745
ISSN (Electronic)1940-6029

Bibliographical note

Publisher Copyright:
© The Author(s), under exclusive license to Springer Science+Business Media, LLC, part of Springer Nature 2025.

Keywords

  • CNA
  • Chromothripsis
  • Feature engineering
  • Mutual exclusivity
  • TP53

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