プロフィール詳細

プロジェクトを作成

★★★★★

☆☆☆☆☆

★★★★★

☆☆☆☆☆

Roberto A.に依頼

Spain

Bioinformatician with +10 years of experience in genomics and transcriptomics.

プロフィール概要

I am a senior bioinformatician with over 10 years of experience delivering large-scale NGS analysis in ISO 13485, CAP, and CLIA-certified environments. My work spans whole genome, targeted exome, RNA-Seq, and single-cell data, with a proven ability to turn complex genomic datasets into actionable clinical and research insights. I combine deep technical expertise in variant calling (SNPs, CNVs, structural variants), differential expression, and pipeline optimization with a strong track record of high-impact scientific contributions, including publications in Nature and the American Journal of Obstetrics & Gynecology. I have led the analysis and quality control of tens of thousands of clinical exomes, consistently meeting strict turnaround and accuracy requirements. I am proficient in BWA, DeepVariant, FreeBayes, SnpEff, and GATK, and experienced in integrating these tools into efficient, scalable pipelines. My background also includes biostatistics, data visualization, and the application of machine learning to genomics for predictive modelling and classification tasks. I am the author of multiple highly cited publications, including "Evidence that the endometrial microbiota has an effect on implantation success or failure" (American Journal of Obstetrics & Gynecology, 2016), "Genomics of the origin and evolution of Citrus" (Nature, 2018), "Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening" (Genetics in Medicine, 2019), and "The differential diagnoses of uterine leiomyomas and leiomyosarcomas using DNA and RNA sequencing" (American Journal of Obstetrics & Gynecology, 2019). Full list of publications: https://scholar.google.com/citations?user=e0Gfk6gAAAAJ&hl=es

専門分野

• ★ Data Analysis
• ★ Machine Learning
• ★ Bioinformatics
• ☆ Biostatistics
• ☆ Molecular Biology
• ☆ Genetics
• ☆ Omics
• ☆ Transcriptomics
• ☆ Genomics
• ☆ Genome Sequencing
• ☆ RNA Sequencing
• ☆ Data Exploration
• ☆ Data Visualization
• ☆ Gene & Protein Expression Analysis
• ☆ Systems Biology
• ☆ Structural Bioinformatics
• ☆ Python

サービス

• Writing
• Research
• Consulting
• Data & AI
• Product Development

Writing Technical Writing, Copywriting

Research User Research

Consulting Scientific and Technical Consulting

Data & AI Predictive Modeling, Statistical Analysis, Algorithm Design-Non ML, Data Visualization, Data Processing, Data Insights

Product Development Product Validation, Prototyping

職務経験

Bioinformatics manager

Igenomix

8月 2015 - 現在

Chair in Computational Genomics for Príncipe Felipe Research Center Foundation (CIPF)

Atos

7月 2014 - 7月 2015

Software Engineer and Bioinformatics

Príncipe Felipe Research Center Foundation (CIPF)

5月 2010 - 6月 2014

Software Engineer

CERN The European Organization for Nuclear Research

6月 2009 - 5月 2010

Software Engineer

Azahar Ingenieria S.L

1月 2006 - 1月 2007

Help Desk Specialist

f1 connecting

1月 2005 - 1月 2006

学歴

Biostatistics

Universidad de Valencia

9月 2017 - 6月 2019

Computer Science

Universidad Politécnica de Valencia - Spain

9月 2003 - 1月 2010

認定資格

• 認定資格の詳細は未入力です。

出版物

JOURNAL ARTICLE

Roberto Alonso Valero, Alba Machado-Lopez, Victor Lago, Jorge Jiménez-Almazán, Marta Garcia, Javier Monleon, Susana Lopez, Francisco Barcelo, Amparo Torroba, Sebastian Ortiz, et al. (2022). Integrative Genomic and Transcriptomic Profiling Reveals a Differential Molecular Signature in Uterine Leiomyoma versus Leiomyosarcoma . International Journal of Molecular Sciences.

Mas, Aymara and Alonso, Roberto and Garrido-G{\'o}mez, Tamara and Escorcia, Patricia and Montero, Beatriz and Jim{\'e}nez-Almaz{\'a}n, Jorge and Mart{\'\i}n, Julio and Pellicer, Nuria and Monle{\'o}n, Javier and Sim{\'o}n, Carlos(2019). The differential diagnoses of uterine leiomyomas and leiomyosarcomas using DNA and RNA sequencing. American Journal of Obstetrics and Gynecology. 221. (4). Microsoft.AspNetCore.Mvc.Localization.LocalizedHtmlString 320--e1. Mosby

Capalbo, Antonio and Valero, Roberto Alonso and Jimenez-Almazan, Jorge and Pardo, Pere Mir and Fabiani, Marco and Jim{\'e}nez, David and Simon, Carlos and Rodriguez, Julio Martin(2019). Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: translational research genomic data from 14,125 exomes. PLoS Genetics. 15. (10). Microsoft.AspNetCore.Mvc.Localization.LocalizedHtmlString e1008409. Public Library of Science San Francisco, CA USA

Wu, Guohong Albert and Terol, Javier and Ibanez, Victoria and L{\'o}pez-Garc{\'\i}a, Antonio and P{\'e}rez-Rom{\'a}n, Estela and Borred{\'a}, Carles and Domingo, Concha and Tadeo, Francisco R and Carbonell-Caballero, Jose and Alonso, Roberto and others(2018). Genomics of the origin and evolution of Citrus. Nature. 554. (7692). Microsoft.AspNetCore.Mvc.Localization.LocalizedHtmlString 311--316. Nature Publishing Group

Moreno, I and Codo{\~n}er, FM and Vilella, F and Valbuena, D and Martinez-Blanch, JF and Jimenez-Almaz{\'a}n, J and Alonso, R and Alam{\'a}, P and Remoh{\'\i}, J and Pellicer, A and others(2017). Report of Major Impact Evidence that the endometrial microbiota has an effect on. Am. J. Obstet. Gynecol. 215. Microsoft.AspNetCore.Mvc.Localization.LocalizedHtmlString 684--703.

Carbonell-Caballero, Jos{\'e} and Amadoz, Alicia and Alonso, Roberto and Hidalgo, Marta R and Cubuk, Cankut and Conesa, David and L{\'o}pez-Qu{\'\i}lez, Antonio and Dopazo, Joaqu{\'\i}n(2017). Reference genome assessment from a population scale perspective: an accurate profile of variability and noise. Bioinformatics. 33. (22). Microsoft.AspNetCore.Mvc.Localization.LocalizedHtmlString 3511--3517. Oxford University Press

Salavert, Francisco and Garc{\'\i}a-Alonso, Luz and S{\'a}nchez, Rub{\'e}n and Alonso, Roberto and Bleda, Marta and Medina, Ignacio and Dopazo, Joaqu{\'\i}n(2016). Web-based network analysis and visualization using CellMaps. Bioinformatics. 32. (19). Microsoft.AspNetCore.Mvc.Localization.LocalizedHtmlString 3041--3043. Oxford University Press

Moreno, Inmaculada and Codo{\~n}er, Francisco M and Vilella, Felipe and Valbuena, Diana and Martinez-Blanch, Juan F and Jimenez-Almaz{\'a}n, Jorge and Alonso, Roberto and Alam{\'a}, Pilar and Remoh{\'\i}, Jose and Pellicer, Antonio and others(2016). Evidence that the endometrial microbiota has an effect on implantation success or failure. American journal of obstetrics and gynecology. 215. (6). Microsoft.AspNetCore.Mvc.Localization.LocalizedHtmlString 684--703. Mosby

Carbonell-Caballero, Jose and Alonso, Roberto and Iba{\~n}ez, Victoria and Terol, Javier and Talon, Manuel and Dopazo, Joaquin(2015). A phylogenetic analysis of 34 chloroplast genomes elucidates the relationships between wild and domestic species within the genus Citrus. Molecular biology and evolution. 32. (8). Microsoft.AspNetCore.Mvc.Localization.LocalizedHtmlString 2015--2035. Oxford University Press

Alonso, Roberto and Salavert, Francisco and Garcia-Garcia, Francisco and Carbonell-Caballero, Jose and Bleda, Marta and Garcia-Alonso, Luz and Sanchis-Juan, Alba and Perez-Gil, Daniel and Marin-Garcia, Pablo and Sanchez, Ruben and others(2015). Babelomics 5.0: functional interpretation for new generations of genomic data. Nucleic acids research. 43. (W1). Microsoft.AspNetCore.Mvc.Localization.LocalizedHtmlString W117--W121. Oxford University Press

Ibanez, Victoria and Garc{\'\i}a Usach, A and Carbonell Caballero, J and Alonso, Roberto and Terol, Javier and Dopazo, Joaqu{\'\i}n and Tal{\'o}n, Manuel and others(2015). El origen de las especies cultivadas de ćıtricos. Levante Agŕıcola: Revista internacional de ćıtricos. (426). Microsoft.AspNetCore.Mvc.Localization.LocalizedHtmlString 74--79.

Terol, Javier and Iba{\~n}ez, Victoria and Carbonell, Jos{\'e} and Alonso, Roberto and Estornell, Leandro H and Licciardello, Concetta and Gut, Ivo G and Dopazo, Joaqu{\'\i}n and Talon, Manuel(2015). Involvement of a citrus meiotic recombination TTC-repeat motif in the formation of gross deletions generated by ionizing radiation and MULE activation. BMC genomics. 16. (1). Microsoft.AspNetCore.Mvc.Localization.LocalizedHtmlString 1--14. BioMed Central

Medina, Ignacio and Salavert, Francisco and Sanchez, Ruben and de Maria, Alejandro and Alonso, Roberto and Escobar, Pablo and Bleda, Marta and Dopazo, Joaqu{\'\i}n(2013). Genome Maps, a new generation genome browser. Nucleic acids research. 41. (W1). Microsoft.AspNetCore.Mvc.Localization.LocalizedHtmlString W41--W46. Oxford University Press

Garc{\'\i}a-Alonso, Luz and Alonso, Roberto and Vidal, Enrique and Amadoz, Alicia and de Mar{\'\i}a, Alejandro and Minguez, Pablo and Medina, Ignacio and Dopazo, Joaqu{\'\i}n(2012). Discovering the hidden sub-network component in a ranked list of genes or proteins derived from genomic experiments. Nucleic acids research. 40. (20). Microsoft.AspNetCore.Mvc.Localization.LocalizedHtmlString e158--e158. Oxford University Press

Bleda, Marta and Medina, Ignacio and Alonso, Roberto and De Maria, Alejandro and Salavert, Francisco and Dopazo, Joaquin(2012). Inferring the regulatory network behind a gene expression experiment. Nucleic acids research. 40. (W1). Microsoft.AspNetCore.Mvc.Localization.LocalizedHtmlString W168--W172. Oxford University Press

Medina, Ignacio and De Maria, Alejandro and Bleda, Marta and Salavert, Francisco and Alonso, Roberto and Gonzalez, Cristina Y and Dopazo, Joaquin(2012). VARIANT: Command Line, Web service and Web interface for fast and accurate functional characterization of variants found by Next-Generation Sequencing. Nucleic acids research. 40. (W1). Microsoft.AspNetCore.Mvc.Localization.LocalizedHtmlString W54--W58. Oxford University Press

Bleda, Marta and Medina, Ignacio and Alonso, Roberto and De Mar{\'\i}a, Alejandro and Salavert, Francisco and Dopazo, Joaqu{\'\i}nRENATO: Inferring the regulatory network behind a gene expression experiment.