Vicente Yépez


2022 - present Co-head of the RNA-seq working group, European Commission project Solve-RD
2021 - present Postdoc and lab scientific manager in the Chair of Computational Molecular Medicine, TUM, Germany
2016 - present Tutor of Data Analysis and Visualization and of Statistical Methods for System Genetics, TUM, Germany
2014 - 2020 PhD student in the Chair of Computational Molecular Medicine, TUM, Germany
2011 Demand Forecasting, Requirements Planning and Sales & Operations Consultant, Novatech, Ecuador
2010 Assistant in supply chain area, Kellogg's Company, Mexico


2021 Dr. rer. nat. by the Chair of Computational Molecular Medicine, TUM, Germany
2011 - 2013 M.Sc in Mathematical Modeling in Engineering, University of L'Aquila, Italy
2012 Numerical Analysis Semester, University of Nice - Sophia Antipolis, France
2006 - 2010 B.Sc in Industrial Engineering Tecnologico de Monterrey, Querétaro, Mexico
2009 International Business Administration Program, ESCIP School of Business, St. Omer, France


  • Wouter Steyaert*, Lydia Sagath*, German Demidov, Vicente A. Yépez, Anna Esteve-Codina, Julien Gagneur, ...,  Christian Gilissen, Alexander Hoischen. Unravelling undiagnosed rare disease cases by HiFi long-read genome sequencing. medRxiv, 2024

  • Xueqi Cao, ..., Ines F. Scheller, Nils Wagner, Vicente A. Yépez, Piers Blombery, Torsten Haferlach, Matthias Heinig, Leonhard Wachutka@, Stephan Hutter@, Julien Gagneur@. Analysis of 3760 hematologic malignancies reveals rare transcriptomic aberrations of driver genes. Genome Medicine, 2023, PMID: 38769532

  • Pedro Tomaz da Silva, Yujie Zhang, Evangelos Theodorakis, Laura D. Martens, Vicente A. Yépez, Vicent Pelechano, Julien Gagneur. Cellular energy regulates mRNA translation and degradation in a codon-specific manner. Molecular Systems Biology, 2024, PMID: 38491213

  • Vicente A. Yépez@, Nicholas H. Smith, Ines Scheller, Julien Gagneur, Christian Mertes@. Predicting molecular events underlying rare diseases using variant annotation, aberrant gene expression events, and human phenotype ontology. Research Square, 2023

  • Ines Scheller, Karoline Lutz, Christian Mertes, Vicente A. Yépez@, Julien Gagneur@. Improved detection of aberrant splicing and the Intron Jaccard Index. The American Journal of Human Genetics, 2023, PMID: 38006880 Sharedlt Link

  • Nils Wagner, Muhammed H. Çelik, Florian R. Hölzlwimmer, Christian Mertes, Holger Prokisch, Vicente A. Yépez, Julien Gagneur. Aberrant splicing prediction across human tissues. Nature Genetics, 2023, PMID: 37142848

  • Vicente A. Yépez*, Mirjana Gusic*, Robert Kopajtich, Christian Mertes, Nicholas H. Smith, ..., Michaela F. Müller, ..., Julien Gagneur@, Holger Prokisch@. Clinical implementation of RNA sequencing for Mendelian disease diagnosticsGenome Medicine, 2022, PMID: 35379322

  • Vicente A. Yépez, Christian Mertes, Michaela F. Müller, Daniela S. Andrade, Leonhard Wachutka, Laure Frésard, Mirjana Gusic, Ines Scheller, Patricia F. Goldberg, Holger Prokisch, Julien Gagneur. Detection of aberrant gene expression events in RNA-seq data. Nature Protocols , 2021, PMID: 33462443 Sharedlt link.

  • Laura D. Martens, David S. Fischer, Vicente A. Yépez, Fabian J. Theis@, Julien Gagneur@. Modeling fragment counts improves single-cell ATAC-seq analysis. Nature Methods, 2023

  • Mianne Lee*, Anna K. Y. Kwong*, ..., Vicente A. Yépez, Julien Gagneur, Anita S. Y. Kan, Brian H. Y. Chung. Diagnostic potential of the amniotic fluid cells transcriptome in deciphering mendelian disease: a proof-of-concept. npj Genomic Medicine, 2022, PMID: 36577754

  • Gerard Muñoz-Pujol, ..., Vicente A. Yépez, Mirjana Gusic, Julien Gagneur, Holger Prokisch, Rafael Artuch, Antonia Ribes, Roser Urreizti, Frederic Tort. Leigh syndrome is the main clinical characteristic of PTCD3 deficiency. Brain Pathology, 2022, PMID: 36450274

  • Gerard Muñoz-Pujol, ..., Vicente A. Yépez, Julien Gagneur, Mirjana Gusic, Holger Prokisch, ..., Antonia Ribes. Diagnostic Odyssey in an Adult Patient with Ophthalmologic Abnormalities and Hearing Loss: Contribution of RNA-Seq to the Diagnosis of a PEX1 DeficiencyInternational Journal of Molecular Sciences, 2022, PMID: 36293220

  • Christian Mertes*, Ines Scheller*, Vicente A. Yépez, Muhammed H. Çelik, Yingjiqiong Liang, Laura S. Kremer, Mirjana Gusic, Holger Prokisch, Julien Gagneur. Detection of aberrant splicing events in RNA-Seq data with FRASER. Nature Communcations, 2021, PMID: 33483494 Sharedlt link.

  • David R. Murdock, ..., Michaela F. Müller,  Vicente A. Yépez, Julien Gagneur, ..., Undiagnosed Diseases Network, Brendan Lee. Transcriptome-directed analysis for Mendelian disease diagnosis overcomes limitations of conventional genomic testing. Journal of Clinical Investigation, 2021. PMID: 33001864

  • Mirjana Gusic, G. Schottmann, R. G. Feichtinger, ..., Vicente A. Yépez, ..., Saskia B. Wortmann, Holger Prokisch, Markus Schuelke. Bi-Allelic UQCRFS1 Variants Are Associated with Mitochondrial Complex III Deficiency, Cardiomyopathy, and Alopecia Totalis. AJHG, 2020. PMID: 31883641

  • Felix Brechtmann, Agne Matuseviciute, Christian Mertes, Vicente A. Yépez, Ziga Avsec, Maximilian Herzog, Daniel Magnus Bader, Holger Prokisch, Julien Gagneur. OUTRIDER: A statistical method for detecting aberrantly expressed genes in RNA sequencing data. AJHG, 2018, PMID: 30503520

  • Vicente A. Yépez, Laura S. Kremer, ..., Holger Prokisch, Julien Gagneur. OCR-Stats: Robust estimation and statistical testing of mitochondrial respiration activities using Seahorse XF Analyzer. PLoS ONE, 2018. PMID: 29995917