Robustness evaluations of pathway activity inference methods on gene expression data

Abstract Background With the exponential growth of high-throughput technologies, multiple pathway analysis methods have been proposed to estimate pathway activities from gene expression profiles. These pathway activity inference methods can be divided into two main categories: non-Topology-Based (no...

Full description

Bibliographic Details
Main Authors: Tay Xin Hui, Shahreen Kasim, Izzatdin Abdul Aziz, Mohd Farhan Md Fudzee, Nazleeni Samiha Haron, Tole Sutikno, Rohayanti Hassan, Hairulnizam Mahdin, Seah Choon Sen
Format: Article
Language:English
Published: BMC 2024-01-01
Series:BMC Bioinformatics
Subjects:
Online Access:https://doi.org/10.1186/s12859-024-05632-w
_version_ 1827381933676429312
author Tay Xin Hui
Shahreen Kasim
Izzatdin Abdul Aziz
Mohd Farhan Md Fudzee
Nazleeni Samiha Haron
Tole Sutikno
Rohayanti Hassan
Hairulnizam Mahdin
Seah Choon Sen
author_facet Tay Xin Hui
Shahreen Kasim
Izzatdin Abdul Aziz
Mohd Farhan Md Fudzee
Nazleeni Samiha Haron
Tole Sutikno
Rohayanti Hassan
Hairulnizam Mahdin
Seah Choon Sen
author_sort Tay Xin Hui
collection DOAJ
description Abstract Background With the exponential growth of high-throughput technologies, multiple pathway analysis methods have been proposed to estimate pathway activities from gene expression profiles. These pathway activity inference methods can be divided into two main categories: non-Topology-Based (non-TB) and Pathway Topology-Based (PTB) methods. Although some review and survey articles discussed the topic from different aspects, there is a lack of systematic assessment and comparisons on the robustness of these approaches. Results Thus, this study presents comprehensive robustness evaluations of seven widely used pathway activity inference methods using six cancer datasets based on two assessments. The first assessment seeks to investigate the robustness of pathway activity in pathway activity inference methods, while the second assessment aims to assess the robustness of risk-active pathways and genes predicted by these methods. The mean reproducibility power and total number of identified informative pathways and genes were evaluated. Based on the first assessment, the mean reproducibility power of pathway activity inference methods generally decreased as the number of pathway selections increased. Entropy-based Directed Random Walk (e-DRW) distinctly outperformed other methods in exhibiting the greatest reproducibility power across all cancer datasets. On the other hand, the second assessment shows that no methods provide satisfactory results across datasets. Conclusion However, PTB methods generally appear to perform better in producing greater reproducibility power and identifying potential cancer markers compared to non-TB methods.
first_indexed 2024-03-08T14:12:08Z
format Article
id doaj.art-63e7d008de894a00913f61666e7ae209
institution Directory Open Access Journal
issn 1471-2105
language English
last_indexed 2024-03-08T14:12:08Z
publishDate 2024-01-01
publisher BMC
record_format Article
series BMC Bioinformatics
spelling doaj.art-63e7d008de894a00913f61666e7ae2092024-01-14T12:38:45ZengBMCBMC Bioinformatics1471-21052024-01-0125112410.1186/s12859-024-05632-wRobustness evaluations of pathway activity inference methods on gene expression dataTay Xin Hui0Shahreen Kasim1Izzatdin Abdul Aziz2Mohd Farhan Md Fudzee3Nazleeni Samiha Haron4Tole Sutikno5Rohayanti Hassan6Hairulnizam Mahdin7Seah Choon Sen8Soft Computing and Data Mining Center, Faculty of Computer Sciences and Information Technology, Universiti Tun Hussein Onn Malaysia (UTHM)Soft Computing and Data Mining Center, Faculty of Computer Sciences and Information Technology, Universiti Tun Hussein Onn Malaysia (UTHM)Computer and Information Sciences Department (CISD), Universiti Teknologi PETRONAS (UTP)Soft Computing and Data Mining Center, Faculty of Computer Sciences and Information Technology, Universiti Tun Hussein Onn Malaysia (UTHM)Computer and Information Sciences Department (CISD), Universiti Teknologi PETRONAS (UTP)Department of Electrical Engineering, Universitas Ahmad Dahlan (UAD)Faculty of Electrical Engineering, Universiti Teknologi Malaysia (UTM)Soft Computing and Data Mining Center, Faculty of Computer Sciences and Information Technology, Universiti Tun Hussein Onn Malaysia (UTHM)Faculty of Computing, Universiti Teknologi Malaysia (UTM)Abstract Background With the exponential growth of high-throughput technologies, multiple pathway analysis methods have been proposed to estimate pathway activities from gene expression profiles. These pathway activity inference methods can be divided into two main categories: non-Topology-Based (non-TB) and Pathway Topology-Based (PTB) methods. Although some review and survey articles discussed the topic from different aspects, there is a lack of systematic assessment and comparisons on the robustness of these approaches. Results Thus, this study presents comprehensive robustness evaluations of seven widely used pathway activity inference methods using six cancer datasets based on two assessments. The first assessment seeks to investigate the robustness of pathway activity in pathway activity inference methods, while the second assessment aims to assess the robustness of risk-active pathways and genes predicted by these methods. The mean reproducibility power and total number of identified informative pathways and genes were evaluated. Based on the first assessment, the mean reproducibility power of pathway activity inference methods generally decreased as the number of pathway selections increased. Entropy-based Directed Random Walk (e-DRW) distinctly outperformed other methods in exhibiting the greatest reproducibility power across all cancer datasets. On the other hand, the second assessment shows that no methods provide satisfactory results across datasets. Conclusion However, PTB methods generally appear to perform better in producing greater reproducibility power and identifying potential cancer markers compared to non-TB methods.https://doi.org/10.1186/s12859-024-05632-wPathway analysisReproducibility powerRobustnessPubMed text data miningLiterature validationPathway activity inference
spellingShingle Tay Xin Hui
Shahreen Kasim
Izzatdin Abdul Aziz
Mohd Farhan Md Fudzee
Nazleeni Samiha Haron
Tole Sutikno
Rohayanti Hassan
Hairulnizam Mahdin
Seah Choon Sen
Robustness evaluations of pathway activity inference methods on gene expression data
BMC Bioinformatics
Pathway analysis
Reproducibility power
Robustness
PubMed text data mining
Literature validation
Pathway activity inference
title Robustness evaluations of pathway activity inference methods on gene expression data
title_full Robustness evaluations of pathway activity inference methods on gene expression data
title_fullStr Robustness evaluations of pathway activity inference methods on gene expression data
title_full_unstemmed Robustness evaluations of pathway activity inference methods on gene expression data
title_short Robustness evaluations of pathway activity inference methods on gene expression data
title_sort robustness evaluations of pathway activity inference methods on gene expression data
topic Pathway analysis
Reproducibility power
Robustness
PubMed text data mining
Literature validation
Pathway activity inference
url https://doi.org/10.1186/s12859-024-05632-w
work_keys_str_mv AT tayxinhui robustnessevaluationsofpathwayactivityinferencemethodsongeneexpressiondata
AT shahreenkasim robustnessevaluationsofpathwayactivityinferencemethodsongeneexpressiondata
AT izzatdinabdulaziz robustnessevaluationsofpathwayactivityinferencemethodsongeneexpressiondata
AT mohdfarhanmdfudzee robustnessevaluationsofpathwayactivityinferencemethodsongeneexpressiondata
AT nazleenisamihaharon robustnessevaluationsofpathwayactivityinferencemethodsongeneexpressiondata
AT tolesutikno robustnessevaluationsofpathwayactivityinferencemethodsongeneexpressiondata
AT rohayantihassan robustnessevaluationsofpathwayactivityinferencemethodsongeneexpressiondata
AT hairulnizammahdin robustnessevaluationsofpathwayactivityinferencemethodsongeneexpressiondata
AT seahchoonsen robustnessevaluationsofpathwayactivityinferencemethodsongeneexpressiondata