RT info:eu-repo/semantics/conferenceObject T1 BLASSO: integration of biological knowledge into a regularized linear model A1 Urda Muñoz, Daniel A1 Aragón, Francisco A1 Bautista, Rocío A1 Franco, Leonardo A1 Veredas, Francisco J. A1 Claros, Manuel Gonzalo A1 Jerez, José Manuel K1 RNA-Seq K1 Biomarkers selection K1 Biological knowledge K1 Machine learning K1 Precision medicine K1 Informática K1 Computer science K1 Biología molecular K1 Molecular biology AB In RNA-Seq gene expression analysis, a genetic signature or biomarker is defined as a subset of genesthat is probably involved in a given complex human trait and usually provide predictive capabilities for that trait. Thediscovery of new genetic signatures is challenging, as it entails the analysis of complex-nature information encoded atgene level. Moreover, biomarkers selection becomes unstable, since high correlation among the thousands of genesincluded in each sample usually exists, thus obtaining very low overlapping rates between the genetic signaturesproposed by different authors. In this sense, this paper proposes BLASSO, a simple and highly interpretable linearmodel with l1-regularization that incorporates prior biological knowledge to the prediction of breast canceroutcomes. Two different approaches to integrate biological knowledge in BLASSO, Gene-specific and Gene-disease, areproposed to test their predictive performance and biomarker stability on a public RNA-Seq gene expression datasetfor breast cancer. The relevance of the genetic signature for the model is inspected by a functional analysis. PB Springer Nature SN 1752-0509 YR 2018 FD 2018 LK http://hdl.handle.net/10259/7263 UL http://hdl.handle.net/10259/7263 LA eng NO Publication of this manuscript was sponsored by TIN2017-88728-C2 grant. DS Repositorio Institucional de la Universidad de Burgos RD 04-dic-2024