Proof of concept for an age- and inflammation-adjusted model for the establishment of pediatric serum copper reference intervals
Alexandre Perera Lluna
bioinformatics, metabolomics, transformer, EHR, rare diseases, UPC, Barcelona, machine learning
Bio

Welcome to my site. My name is Alexandre Perera Lluna, sometimes Alex Perera. I hold a degree in Physics, a second degree in Electrical Engineering, and a PhD in Physics from the University of Barcelona. I currently lead the B2SLab, which is part of the Institute for Research and Innovation in Health (IRIS), formerly the Research Center for Biomedical Engineering (CREB) at the Universitat Politècnica de Catalunya (Polytechnic University of Catalonia, UPC), located in the beautiful city of Barcelona. It is a fantastic place for research, culture, and leisure—I truly love this city.
At B2SLab, we integrate Data Science, Bioinformatics, and Bioengineering. My main interests include predicting disease trajectories using Transformer and Linear models, as well as applying machine learning to Rare Diseases. I also have experience in data integration, data fusion, metabolomics, functional enrichment, and bioengineering. Since 2022, I have been a full professor at the Universitat Politècnica de Catalunya.
- In 2019, I was appointed as the head of the Research Center for Biomedical Engineering at UPC (CREB-UPC, Centre de Recerca en Enginyeria Biomèdica) which has been recently transformed into the Institute for Research and Innovation in Health (IRIS).
- I also coordinate a fascinating project named Xartec Salut.
Contact
- you can email me at alexandre.perera you guess whatupc.edu
Teaching
I teach several subjects, including:
- Introduction to Bioinformatics.
- Data Mining for Biomedical Databases.
- Scientific computing.
- Machine learning.
- Embedded and real time computing.
Ongoing PhD Thesis
- Maria Barranco1 Computational metabolomics to uncover alterations in diabetes mellitus and its complications
- Joshua Llano
- Joana Gelabert nterpretable Transformer-Based Models for Clinical Outcome Prediction in Type 2 Diabetes Using Longitudinal Electronic Health Records
- Blanca Alaejos *Multimodal Foundation Model for Emergency Department Data: A Reusable Infrastructure for Clinical and Operational Decision Support”
- Helena Rodriguez Gonzalez Statistical characterization of laboratory results in pediatric patients with rare neurometabolic disorders
- Pol Ezquerra Exploring tissue specific gene expression in whole blood: Profiling transcriptomics for predictive biomarker discovery
- Aitor Moruno Assessment of experimental preclinical models by means of in silico methods
- Sergi Gosalvez Foundation models in primary care: interpretable learning from longitudinal EHR data in cardiovascular and endocrine disease
Former PhD Thesis
I have proudly advised several PhD students who have successfully defended their dissertations:
Helena Brunel. Genetic association analysis of complex diseases through information theoretic metrics and linear pleiotropy. Defended on 14/11/2013 at Universitat Politècnica de catalunya
Jorge Alberto Jaramillo Garzón. Protein function prediction with semi-supervised classification based on evolutionary multi-objective optimization, Defended on 25/11/2013 at the Universidad Nacional de Colombia. This thesis was coadvised with Dr. German Castellanos from the same university.
Andrey Ziyatdinov, Biomimetic Setup for Chemosensor-Based Machine olfaction. Defended on 4/12/2014 at Universitat Politècnica de Catalunya.
Francesc Fernandez, Machine Learning Methods for the automated analysis of metabolomic data. Defended on 30/10/2014 at Universitat Politècnica de Catalunya.
Erola Pairó,Detection of Transcription Factor Binding Sites by Means of Multivariate Signal Processing Techniques. Defended on 21/07/2015 at Universitat de Barcelona. This thesis was coadvised with Dr. Santiago Marco from the same university.
Joan Maynou, Computational representation and discovery of transcription factor binding sites. Defended on 01/02/2016 at Universitat Politècnica de Catalunya.
Xavier Domingo, Signal processing in Metabolomics”, Defended on July 2016. Coadvised with Prof. Jesús Brezmes, Universitat Rovira i Virgili.
Giovana Gavidia,Study of Longitudinal Neurodegeneration Biomarkers to Support the Early Diagnosis of Alzheimer’s Disease. Defended on 20/03/2018 at Universitat Politècnica de Catalunya.
Samir Kanaan.Multiview pattern recognition methods for data visualization, embedding and clustering. Defended on 22/09/2017 at Universitat Politècnica de Catalunya.
Sergio Picart, “Statistical Normalisation of Network Propagation Methods for Computational biology” , by Sergio Picart, 23/7,2020. The defense was performed online due to the sars-cov-2 pandemic and published in here.
Angela López del Río, “Development And Improvement Of Computer Aided Drug Development Techniques Using Deep Learning Algorithms”, defended on June 23rd, 2021. currently Post-Doc Data Scientist at Boehringer Ingelheim.
Enrico Manzini2 Deep Learning Strategies for Longitudinal EHRs: Patient Trajectory Modelling, Survival Analysis and Semantic Representations in Chronic Diseases, defended on March 25, 2026.
Publications
You can also check my journal papers, available through:
A possibly incomplete and malformatted list of publications is included below:
20261 publications
20254 publications
Cerebrospinal amino acid profiling in a large cohort of neuropediatric patients with epilepsy
Colorectal adenoma subtypes exhibit signature molecular profiles: unique insights into the microenvironment of advanced precancerous lesions for early detection applications
Guanine and pregnenolone sulfate are associated with incident type 2 diabetes in two independent populations
Lipidomic analysis reveals metabolism alteration associated with subclinical carotid atherosclerosis in type 2 diabetes
20247 publications
Cerebrospinal fluid homovanillic and 5-hydroxyindoleacetic acids in a large pediatric population; establishment of reference intervals and impact of disease and medication
Characterisation of type 2 diabetes subgroups at diagnosis: the COPERNICAN prospective observational cohort study protocol
Factors affecting disease progression in individuals with heterozygous COL4A3/COL4A4 pathogenic variants
Lipidome characterisation and sex-specific differences in type 1 and type 2 diabetes mellitus
Mediterranean diet is a predictor of progression of subclinical atherosclerosis in a mediterranean population: the ILERVAS prospective cohort study
Unraveling athletic performance: transcriptomics and external load monitoring in handball competition
Use of enzymatically converted cell-free DNA (cfDNA) data for copy number variation-linked fragmentation analysis allows for early colorectal cancer detection
20235 publications
Artificial intelligence: a new field of knowledge for nephrologists?
Development of an expert model for the diagnosis of inherited kidney diseases
EpiGe: A machine-learning strategy for rapid classification of medulloblastoma using PCR-based methyl-genotyping
Home monitoring for older singles: A gas sensor array system
Intrinsic functional brain connectivity changes following aerobic exercise, computerized cognitive training, and their combination in physically inactive healthy late-middle-aged adults: the Projecte Moviment
20225 publications
#CoronavirusCruise: Impact and implications of the COVID-19 outbreaks on the perception of cruise tourism
Data processing and analysis in mass spectrometry-based metabolomics
Effects and mechanisms of mindfulness training and physical exercise on cognition, emotional wellbeing, and brain outcomes in chronic stroke patients: study protocol of the MindFit project randomized controlled trial
Longitudinal deep learning clustering of Type 2 Diabetes Mellitus trajectories using routinely collected health records
Mapping layperson medical terminology into the Human Phenotype Ontology using neural machine translation models
20217 publications
Accurate early-stage colorectal cancer detection through analysis of cell-free circulating tumor DNA (ctDNA) methylation patterns
Balancing data on deep learning-based proteochemometric activity classification
Game learning analytics of instant messaging and online discussion forums in higher education
Global collaborative social network (Share4Rare) to promote citizen science in rare disease research: Platform development study
How did the COVID-19 lockdown affect children and adolescent's well-being: Spanish parents, children, and adolescents respond
MMP1 drives tumor progression in large cell carcinoma of the lung through fibroblast senescence
mWISE: an algorithm for context-based annotation of liquid chromatography-mass spectrometry features through diffusion in graphs
20205 publications
Effect of sequence padding on the performance of deep learning models in archaeal protein functional prediction
Eye vergence responses during an attention task in adults with ADHD and clinical controls
MultiPaths: a Python framework for analyzing multi-layer biological networks using diffusion algorithms
Open chromatin region (OCR) based model predicts advanced adenoma in plasma cell-free DNA whole-genome bisulfite sequencing data
The effect of statistical normalisation on network propagation scores
20195 publications
Amitriptyline at an environmentally relevant concentration alters the profile of metabolites beyond monoamines in gilt-head bream
Benchmarking network propagation methods for disease gene identification
Effects and mechanisms of cognitive, aerobic exercise, and combined training on cognition, health, and brain outcomes in physically inactive older adults: the projecte moviment protocol
Evaluation of cross-validation strategies in sequence-based binding prediction using deep learning
Heart failure with preserved ejection fraction infrequently evolves toward a reduced phenotype in long-term survivors: a long-term prospective longitudinal study
201810 publications
Applying learning analytics to students' interaction in business simulation games. The usefulness of learning analytics to know what students really learn
Clinical validation of eye vergence as an objective marker for diagnosis of ADHD in children
Dynamic trajectories of left ventricular ejection fraction in heart failure
FELLA: an R package to enrich metabolomics data
Heart failure with preserved ejection fraction (HFpEF) infrequently evolves towards a HFpEF-declined phenotype
Multiview and multifeature spectral clustering using common eigenvectors
Multiview: a software package for multiview pattern recognition methods
Non-targeted metabolomics reveals alterations in liver and plasma of gilt-head bream exposed to oxybenzone
diffuStats: an R package to compute diffusion-based scores on biological networks
20175 publications
Affected pathways and transcriptional regulators in gene expression response to an ultra-marathon trail: Global and independent activity approaches
Assessment of heart rate variability during an endurance mountain trail race by multi-scale entropy analysis
Baitmet, a computational approach for GC-MS library-driven metabolite profiling
Early prediction of Alzheimer's disease using null longitudinal model-based classifiers
Null diffusion-based enrichment for metabolomics data
20168 publications
Applicability of semi-supervised learning assumptions for gene ontology terms prediction
Automated resolution of chromatographic signals by independent component analysis-orthogonal signal deconvolution in comprehensive gas chromatography/mass spectrometry-based metabolomics
Avoiding hard chromatographic segmentation: A moving window approach for the automated resolution of gas chromatography-mass spectrometry-based metabolomics signals by multivariate methods
Clinical phenotype clustering in cardiovascular risk patients for the identification of responsive metabotypes after red wine polyphenol intake
DNA methylation profiling unveils TGF-ss hyperresponse in tumor associated fibroblasts from lung cancer patients
Solarius: an R interface to SOLAR for variance component analysis in pedigrees
The Central role of KNG1 gene as a genetic determinant of coagulation pathway-related traits: Exploring metaphenotypes
eRah: A Computational Tool Integrating Spectral Deconvolution and Alignment with Quantification and Identification of Metabolites in GC/MS-Based Metabolomics
20156 publications
Aberrant DNA methylation in non-small cell lung cancer-associated fibroblasts
Bioinspired early detection through gas flow modulation in chemo-sensory systems
Compound identification in gas chromatography/mass spectrometry-based metabolomics by blind source separation
Data set from gas sensor array under flow modulation
Sequence information gain based motif analysis
Synthetic benchmarks for machine olfaction: Classification, segmentation and sensor damage
20145 publications
An R package to analyse LC/MS metabolomic data: MAIT (Metabolite Automatic Identification Toolkit)
Automatic capacitor bank identification in power distribution systems
Data simulation in machine olfaction with the R package chemosensors
Intensity drift removal in LC/MS metabolomics by common variance compensation
Peak aggregation as an innovative strategy for improving the predictive power of LC-MS metabolomic profiles
20134 publications
A biomimetic approach to machine olfaction, featuring a very large-scale chemical sensor array and embedded neuro-bio-inspired computation
A software tool for large-scale synthetic experiments based on polymeric sensor arrays
Effect of genetic regions on the correlation between single point mutation variability and morbidity
Predictability of gene ontology slim-terms from primary structure information in Embryophyta plant proteins
20122 publications
A subspace method for the detection of transcription factor binding sites
Choi-Williams distribution to describe coding and non-coding regions in primary transcript pre-mRNA
20111 publications
Biologically inspired computation for chemical sensing
20105 publications
Computational detection of transcription factor binding sites through differential R'enyi entropy
Drift compensation of gas sensor array data by Orthogonal Signal Correction
Drift compensation of gas sensor array data by common principal component analysis
Evaluation of fish spoilage by means of a single metal oxide sensor under temperature modulation
MISS: a non-linear methodology based on mutual information for genetic association studies in both population and sib-pairs analysis
20092 publications
A new gene-based association test for genome-wide association studies
Dimensionality reduction oriented toward the feature visualization for ischemia detection
20081 publications
DNA Binding Site Characterization by Means of R'enyi Entropy Measures on Nucleotide
20072 publications
Gene-phenotype association using mutual information-based cluster analysis
Searching for master regulators of transcription in a human gene expression data set
20064 publications
A dimensionality-reduction technique inspired by receptor convergence in the olfactory system
Feature extraction on three way enose signals
Gas measurement systems based on IEEE1451.2 standard
On-line novelty detection by recursive dynamic principal component analysis and gas sensor arrays under drift conditions
20021 publications
Fuzzy inference system for sensor array calibration : prediction of CO and CH4 levels in variable humidity conditions
20011 publications
An intelligent detector based on temperature modulation of a gas sensor with a digital signal processor
20001 publications
A bio-inspired nonlinear algorithm to integrate carbon monoxide concentration aiming to fulfil international standards
Unknown Year1 publications
Validity of the Polar V800 monitor for measuring heart rate variability in mountain running route conditions
Social Networks