Gene set analysis: challenges, opportunities, and future research

F Maleki, K Ovens, DJ Hogan, AJ Kusalik - Frontiers in genetics, 2020 - frontiersin.org
Gene set analysis methods are widely used to provide insight into high-throughput gene
expression data. There are many gene set analysis methods available. These methods rely …

Big data analytics in healthcare

A Belle, R Thiagarajan… - BioMed research …, 2015 - Wiley Online Library
The rapidly expanding field of big data analytics has started to play a pivotal role in the
evolution of healthcare practices and research. It has provided tools to accumulate, manage …

The reactome pathway knowledgebase

A Fabregat, S Jupe, L Matthews… - Nucleic acids …, 2018 - academic.oup.com
Abstract The Reactome Knowledgebase (https://reactome. org) provides molecular details of
signal transduction, transport, DNA replication, metabolism, and other cellular processes as …

Reactome pathway analysis: a high-performance in-memory approach

A Fabregat, K Sidiropoulos, G Viteri, O Forner… - BMC …, 2017 - Springer
Background Reactome aims to provide bioinformatics tools for visualisation, interpretation
and analysis of pathway knowledge to support basic research, genome analysis, modelling …

Identifying significantly impacted pathways: a comprehensive review and assessment

TM Nguyen, A Shafi, T Nguyen, S Draghici - Genome biology, 2019 - Springer
Background Many high-throughput experiments compare two phenotypes such as disease
vs. healthy, with the goal of understanding the underlying biological phenomena …

Enrichment map: a network-based method for gene-set enrichment visualization and interpretation

D Merico, R Isserlin, O Stueker, A Emili, GD Bader - PloS one, 2010 - journals.plos.org
Background Gene-set enrichment analysis is a useful technique to help functionally
characterize large gene lists, such as the results of gene expression experiments. This …

Pathway analysis in metabolomics: Recommendations for the use of over-representation analysis

C Wieder, C Frainay, N Poupin… - PLoS computational …, 2021 - journals.plos.org
Over-representation analysis (ORA) is one of the commonest pathway analysis approaches
used for the functional interpretation of metabolomics datasets. Despite the widespread use …

Urgent need for consistent standards in functional enrichment analysis

K Wijesooriya, SA Jadaan, KL Perera… - PLoS computational …, 2022 - journals.plos.org
Gene set enrichment tests (aka functional enrichment analysis) are among the most
frequently used methods in computational biology. Despite this popularity, there are …

Ten years of pathway analysis: current approaches and outstanding challenges

P Khatri, M Sirota, AJ Butte - PLoS computational biology, 2012 - journals.plos.org
Pathway analysis has become the first choice for gaining insight into the underlying biology
of differentially expressed genes and proteins, as it reduces complexity and has increased …

PGC-1α-responsive genes involved in oxidative phosphorylation are coordinately downregulated in human diabetes

VK Mootha, CM Lindgren, KF Eriksson… - Nature …, 2003 - nature.com
DNA microarrays can be used to identify gene expression changes characteristic of human
disease. This is challenging, however, when relevant differences are subtle at the level of …