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Global Translational Medicine

REVIEW ARTICLE
Advances in liquid biopsy: Computational and

artificial intelligence approaches in cancer
research

Aurora Maurizio*

Center for Omics Sciences, IRCCS San Raffaele Scientific Institute, Milan, Italy

Abstract

Liquid biopsy analysis has emerged as a promising approach for non-invasive cancer
monitoring and diagnosis. This review provides an overview of the current landscape
and future potential of liquid biopsy in cancer research, with a particular focus on the
computational methodologies and techniques utilized for liquid biopsy data analysis
and interpretation. The challenges and opportunities in extracting meaningful insights
from the vast array of genomic, epigenomic, transcriptomic, and proteomic data
are discussed, as well as the possibilities and current pitfalls of artificial intelligence
approaches. In addition, the benefits and limitations of integrating multimodal
cancer research data are covered, with a focus on advancing precision oncology and
personalized medicine. By providing a critical assessment of the field, this review aims
to foster knowledge about the available computational approaches and facilitate the
choice of the most appropriate methodology for in silico investigation of liquid biopsy
data, ultimately enhancing research endeavors and disease management strategies.
Most of the works discussed in this review have emerged within the past 5 years,
indicating a rapidly growing interest in this technique.
*Corresponding author:
Aurora Maurizio
(maurizio.aurora@hsr.it)
Keywords: Liquid biopsy; Cancer; Circulating tumor cells; Circulating tumor DNA;
Citation: Maurizio A. Advances in Machine learning; Omics; Bioinformatics
liquid biopsy: Computational and
artificial intelligence approaches
in cancer research. Global Transl
Med. 2024:3(3):3063.
doi: 10.36922/gtm.3063 1. Introduction
Received: February 29, 2024 The traditional solid-tissue biopsy is the gold standard for tumor detection and
Accepted: July 3, 2024
Published Online: September 9, monitoring, providing both a histological definition and a genomic profile of the
2024 specimen. Indeed, while a solid biopsy is necessary for the initial histological diagnosis
1
Copyright: © 2024 Author(s). of a tumor, the scientific community is moving from purely histopathologic cancer
This is an Open-Access article diagnosis to molecular-based predictions of disease progression and therapy response.
distributed under the terms of the
Creative Commons Attribution An example of this shift is the WHO classification of central nervous system tumors,
License, permitting distribution, which, since 2016, has included molecular parameters in addition to histology to
and reproduction in any medium, refine tumor stratification and improve patient management. Molecular profiling of
2,3
provided the original work is
4,5
properly cited. gene mutations for prognostic predictions has resulted in great therapeutic advances,
though these are often accompanied by time-limited disease control due to overlooked
Publisher’s Note: AccScience
Publishing remains neutral with clones and the selective pressure for resistant variants induced by cancer treatments. 6
regard to jurisdictional claims in
published maps and institutional Compared to traditional biopsy, liquid biopsy offers several advantages, including
affiliations. its non-invasive nature, rapid execution, and ease of repeatability. This technique

Volume 3 Issue 3 (2024) 1 doi: 10.36922/gtm.3063