Ongoing Work to Study the Underlying Statistical Patterns of Oesophageal Chromothripsis

Jack Fraser-Govil, Zemin Ning

2023

Abstract

In this position paper we demonstrate our ongoing efforts to develop and test a number of statistical tools and methedologies which allow us to study the underlying statistical properties of a genetic sequence which has undergone chromothripsis, and hence provide some novel probes into the mechanisms which cause such catastrophic genomic rearrangement. Using these tools, we study an oesophogeal cancer sample showing more than 1000 rearrangements, with 800 of these on chromosome 6. By studying this chromosome, we challenge a prevalent idea within the literature: that chromothripsis breakpoints are non-random, finding instead that despite a high degree of clustering, the clusters themselves are uniformly distributed across the chromosome. We also show that although 3-dimensional proximity is a tempting explanation for the rearrangement pattern, the statistical evidence does not favour it at the current time. In addition, we attempt to disambiguate some of the terminology surrounding chromothripsis.

Paper Citation

in Harvard Style

Fraser-Govil J. and Ning Z. (2023). Ongoing Work to Study the Underlying Statistical Patterns of Oesophageal Chromothripsis. In Proceedings of the 16th International Joint Conference on Biomedical Engineering Systems and Technologies (BIOSTEC 2023) - Volume 3: BIOINFORMATICS; ISBN 978-989-758-631-6, SciTePress, pages 276-283. DOI: 10.5220/0011785600003414

in Bibtex Style

@conference{bioinformatics23,
author={Jack Fraser-Govil and Zemin Ning},
title={Ongoing Work to Study the Underlying Statistical Patterns of Oesophageal Chromothripsis},
booktitle={Proceedings of the 16th International Joint Conference on Biomedical Engineering Systems and Technologies (BIOSTEC 2023) - Volume 3: BIOINFORMATICS},
year={2023},
pages={276-283},
publisher={SciTePress},
organization={INSTICC},
doi={10.5220/0011785600003414},
isbn={978-989-758-631-6},
}

in EndNote Style

TY - CONF

JO - Proceedings of the 16th International Joint Conference on Biomedical Engineering Systems and Technologies (BIOSTEC 2023) - Volume 3: BIOINFORMATICS
TI - Ongoing Work to Study the Underlying Statistical Patterns of Oesophageal Chromothripsis
SN - 978-989-758-631-6
AU - Fraser-Govil J.
AU - Ning Z.
PY - 2023
SP - 276
EP - 283
DO - 10.5220/0011785600003414
PB - SciTePress