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Mol Oncol ; 18(3): 606-619, 2024 Mar.
Article in English | MEDLINE | ID: mdl-38158740

ABSTRACT

Molecular subtyping is essential to infer tumor aggressiveness and predict prognosis. In practice, tumor profiling requires in-depth knowledge of bioinformatics tools involved in the processing and analysis of the generated data. Additionally, data incompatibility (e.g., microarray versus RNA sequencing data) and technical and uncharacterized biological variance between training and test data can pose challenges in classifying individual samples. In this article, we provide a roadmap for implementing bioinformatics frameworks for molecular profiling of human cancers in a clinical diagnostic setting. We describe a framework for integrating several methods for quality control, normalization, batch correction, classification and reporting, and develop a use case of the framework in breast cancer.


Subject(s)
Breast Neoplasms , Gene Expression Profiling , Humans , Female , Gene Expression Profiling/methods , Breast Neoplasms/diagnosis , Breast Neoplasms/genetics , RNA , Computational Biology/methods , Gene Expression Regulation, Neoplastic
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