プロフィール詳細

プロジェクトを作成

★★★★★

☆☆☆☆☆

★★★★★

☆☆☆☆☆

Dr. Estefania M.に依頼

Spain

15+ years of experience as embedded bioinformatician, leveraging data science and technology in life sciences and health

プロフィール概要

NGS data analysis, RNA-Seq, iCLIP, WES, scRNA-Seq. Agile/Design thinking. R/Bioconductor developer. Advanced Nexflow./AWS./GCP/Linux/Perl/Neo4J. Committed to Trustworthy AI/Green Computing

専門分野

• ☆ Computational Biology
• ☆ Molecular Biology
• ☆ Genetics
• ☆ Genomics
• ☆ Next Generation Sequencing (NGS)
• ☆ Gene Expression Analysis
• ☆ Exome Sequencing
• ☆ RNA Sequencing
• ☆ Data Analysis
• ☆ Cluster Analysis
• ☆ Data Visualization
• ☆ Data Collection
• ☆ Data Management
• ☆ Data Manipulation
• ☆ Machine Learning
• ☆ Artificial Intelligence
• ☆ Deep Learning
• ☆ Bioinformatics
• ☆ Gene & Protein Expression Analysis
• ☆ Data Storage
• ☆ Public Health
• ☆ Global Health
• ☆ Health Technology Assessment

サービス

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

Writing Technical Writing

Research Market Research, Technology Scouting

Consulting Business Strategy Consulting, Digital Strategy Consulting, Healthcare Consulting, Regulatory Consulting

Data & AI Statistical Analysis, Algorithm Design-ML, Data Visualization, Data Cleaning, Data Processing, Data Insights

Product Development Formulation, Concept Development

職務経験

Bioinformatics Scientist

Josep Carreras Leukaemia Institute

8月 2024 - 現在

Senior Bioinformatics Manager

MultuplAI health

9月 2002 - 7月 2024

学歴

postdoc

Centre for Genomic Regulation

2月 2017 - 6月 2022

PhD Biological Sciences

Universidad de Buenos Aires

9月 2012 - 12月 2016

PhD Biological Sciences

Universidad de Buenos Aires

9月 2012 - 12月 2016

Master Biotechnology

Universidad Nacional de Rosario

2月 2003 - 8月 2010

internship

Inria research centre Lille - Nord Europe

7月 2009 - 12月 2009

認定資格

• PhD

  universidad de buenos aires

  1月 2024 - 現在

出版物

JOURNAL ARTICLE

Estefania Mancini, Malgorzata E. Rogalska, Sophie Bonnal, André Gohr, Bryan M. Dunyak, Niccolò Arecco, Peter G. Smith, Frédéric H. Vaillancourt, Juan Valcárcel (2024). Transcriptome-wide splicing network reveals specialized regulatory functions of the core spliceosome . Science.

Estefania Mancini, Ainara González-Iglesias, Aida Arcas, Ana Domingo-Muelas, Joan Galcerán, Juan Valcárcel, Isabel Fariñas, M. Angela Nieto (2024). Publisher Correction: Intron detention tightly regulates the stemness/differentiation switch in the adult neurogenic niche . Nature Communications.

Estefania Mancini, Ainara González-Iglesias, Aida Arcas, Ana Domingo-Muelas, Joan Galcerán, Juan Valcárcel, Isabel Fariñas, M. Angela Nieto (2024). Intron detention tightly regulates the stemness/differentiation switch in the adult neurogenic niche . Nature Communications.

Estefania Mancini, Francisco Aya, Pablo Lanuza-Gracia, Abel González-Pérez, Sophie Bonnal, Nuria López-Bigas, Ana Arance, Valcarcel J (2024). Genomic deletions explain the generation of alternative BRAF isoforms conferring resistance to MAPK inhibitors in melanoma . Cell Reports.

Estefania Mancini and Antoni Garcia-Molina(2022). Analysis of Alternative Splicing During the Combinatorial Response to Simultaneous Copper and Iron Deficiency in Arabidopsis Reveals Differential Events in Genes Involved in Amino Acid Metabolism . Frontiers in Plant Science. 13. Frontiers Media {SA}

Estefania Mancini and Andres Rabinovich and Javier Iserte and Marcelo Yanovsky and Ariel Chernomoretz(2021). ASpli: integrative analysis of splicing landscapes through RNA-Seq assays . Bioinformatics. Oxford University Press ({OUP})

Andrés Romanowski, Rubén G. Schlaen, Soledad Perez‐Santangelo, Estefanía Mancini, Marcelo J. Yanovsky (2020). Global transcriptome analysis reveals circadian control of splicing events in Arabidopsis thaliana . The Plant Journal.

Christian D. Lorenzo and Pedro Garc{\'{\i}}a-Gagliardi and Mariana S. Antonietti and Maximiliano S{\'{a}}nchez-Lamas and Estefan{\'{\i}}a Mancini and Carlos A. Dezar and Martin Vazquez and Ger{\'{o}}nimo Watson and Marcelo J. Yanovsky and Pablo D. Cerd{\'{a}}n(2020). Improvement of alfalfa forage quality and management through the down‐regulation of Ms FT a1 . Plant Biotechnology Journal. 18. (4). Microsoft.AspNetCore.Mvc.Localization.LocalizedHtmlString 944--954. Wiley

Sieira, Rodrigo and Bialer, Magal{\'\i} G and Roset, Mara S and Ruiz-Ranwez, Ver{\'o}nica and Langer, Tom{\'a}s and Arocena, Gast{\'o}n M and Mancini, Estefan{\'\i}a and Zorreguieta, Angeles(2017). Combinatorial control of adhesion of Brucella abortus 2308 to host cells by transcriptional rewiring of the trimeric autotransporter btaE gene. Molecular microbiology. 103. (3). Microsoft.AspNetCore.Mvc.Localization.LocalizedHtmlString 553--565. Wiley Online Library

Estefania Mancini, Federico A. De Maio, Ted C. Pierson, Guillermo Risso, Nestor G. Iglesias, Priya Shah, Berta Pozzi, Leopoldo G. Gebhard, Pablo Mammi, Marcelo J. Yanovsky, et al.(2016). The Dengue Virus NS5 Protein Intrudes in the Cellular Spliceosome and Modulates Splicing . PLOS Pathogens. 12. (8). Microsoft.AspNetCore.Mvc.Localization.LocalizedHtmlString e1005841. Public Library of Science ({PLoS})

De Maio, Federico A and Risso, Guillermo and Iglesias, Nestor G and Shah, Priya and Pozzi, Berta and Gebhard, Leopoldo G and Mammi, Pablo and Mancini, Estefania and Yanovsky, Marcelo J and Andino, Raul and others(2016). The dengue virus NS5 protein intrudes in the cellular spliceosome and modulates splicing. PLoS Pathog. 12. (8). Microsoft.AspNetCore.Mvc.Localization.LocalizedHtmlString e1005841. Public Library of Science

Mancini, Estefania and Sanchez, Sabrina E and Romanowski, Andres and Schlaen, Ruben G and Sanchez-Lamas, Maximiliano and Cerd{\'a}n, Pablo D and Yanovsky, Marcelo J(2016). Acute Effects of Light on Alternative Splicing in Light-Grown Plants. Photochemistry and photobiology. 92. (1). Microsoft.AspNetCore.Mvc.Localization.LocalizedHtmlString 126--133. Wiley Online Library

Schlaen, Rub{\'e}n Gustavo and Mancini, Estefan{\'\i}a and Sanchez, Sabrina Elena and Perez-Sant{\'a}ngelo, Soledad and Rugnone, Mat{\'\i}as L and Simpson, Craig G and Brown, John WS and Zhang, Xu and Chernomoretz, Ariel and Yanovsky, Marcelo J(2015). The spliceosome assembly factor GEMIN2 attenuates the effects of temperature on alternative splicing and circadian rhythms. Proceedings of the National Academy of Sciences. 112. (30). Microsoft.AspNetCore.Mvc.Localization.LocalizedHtmlString 9382--9387. National Acad Sciences

Hernando, Carlos E and Sanchez, Sabrina E and Mancini, Estefan{\'\i}a and Yanovsky, Marcelo J(2015). Genome wide comparative analysis of the effects of PRMT5 and PRMT4/CARM1 arginine methyltransferases on the Arabidopsis thaliana transcriptome. BMC genomics. 16. (1). Microsoft.AspNetCore.Mvc.Localization.LocalizedHtmlString 192. BioMed Central

Bencke-Malato, Marta and Cabreira, Caroline and Wiebke-Strohm, Beatriz and B{\"u}cker-Neto, Lauro and Mancini, Estefania and Osorio, Marina B and Homrich, Milena S and Turchetto-Zolet, Andreia Carina and De Carvalho, Mayra CCG and Stolf, Renata and others(2014). Genome-wide annotation of the soybean WRKY family and functional characterization of genes involved in response to Phakopsora pachyrhizi infection. BMC plant biology. 14. (1). Microsoft.AspNetCore.Mvc.Localization.LocalizedHtmlString 236. BioMed Central

Perez-Sant{\'a}ngelo, Soledad and Mancini, Estefan{\'\i}a and Francey, Lauren J and Schlaen, Ruben Gustavo and Chernomoretz, Ariel and Hogenesch, John B and Yanovsky, Marcelo J(2014). Role for LSM genes in the regulation of circadian rhythms. Proceedings of the National Academy of Sciences. 111. (42). Microsoft.AspNetCore.Mvc.Localization.LocalizedHtmlString 15166--15171. National Acad Sciences

Rugnone, Matias L and Soverna, Ana Faig{\'o}n and Sanchez, Sabrina E and Schlaen, Ruben Gustavo and Hernando, Carlos Esteban and Seymour, Danelle K and Mancini, Estefan{\'\i}a and Chernomoretz, Ariel and Weigel, Detlef and M{\'a}s, Paloma and others(2013). LNK genes integrate light and clock signaling networks at the core of the Arabidopsis oscillator. Proceedings of the National Academy of Sciences. 110. (29). Microsoft.AspNetCore.Mvc.Localization.LocalizedHtmlString 12120--12125. National Acad Sciences

Kauffman, Marcelo Andr{\'e}s and Gonz{\'a}lez-Mor{\'o}n, Dolores and Consalvo, Dami{\'a}n and Westergaard, Gast{\'o}n and Vazquez, Mart{\'\i}n and Mancini, Estefan{\'\i}a and Taratuto, Ana L{\'\i}a and Rey, Ra{\'u}l and Kochen, Silvia(2012). Diagnosis of mitochondrial disorders applying massive pyrosequencing. Molecular biology reports. 39. (6). Microsoft.AspNetCore.Mvc.Localization.LocalizedHtmlString 6655--6660. Springer

Farias, Maria Eugenia and Revale, Santiago and Mancini, Estefania and Ordo{\~n}ez, Omar and Turjanski, Adrian and Cortez, N{\'e}stor and Vazquez, Martin P(2011). Genome sequence of Sphingomonas sp. S17, isolated from an alkaline, hyperarsenic, and hypersaline volcano-associated lake at high altitude in the Argentinean Puna. Journal of bacteriology. 193. (14). Microsoft.AspNetCore.Mvc.Localization.LocalizedHtmlString 3686--3687. Am Soc Microbiol

PREPRINT

Estefania Mancini, Arun Prasath Damodaran, Olivia Gavard, Jean-Philippe Gagné, Malgorzata Ewa Rogalska, Thibault Courtheoux, Justine Cailloce, Agnès Mereau, Guy G. Poirier, Juan Valcárcel, et al. (2020). Aurora-A phosphorylates splicing factors and regulates alternative splicing .

OTHER

Andrés Romanowski, Rubén G. Schlaen, Soledad Perez-Santangelo, Estefanía Mancini, Marcelo J. Yanovsky(2019). Global transcriptome analysis reveals circadian control of splicing events in Arabidopsis thaliana . Cold Spring Harbor Laboratory