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Profile Details
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★★★★★
☆☆☆☆☆
USD 100 /hr
Hire Dr. Estefania M.
Spain
USD 100 /hr

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

Profile Summary
Subject Matter Expertise
Services
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
Work Experience

Bioinformatics Scientist

Josep Carreras Leukaemia Institute

August 2024 - Present

Senior Bioinformatics Manager

MultuplAI health

September 2002 - July 2024

Education

postdoc

Centre for Genomic Regulation

February 2017 - June 2022

PhD Biological Sciences

Universidad de Buenos Aires

September 2012 - December 2016

PhD Biological Sciences

Universidad de Buenos Aires

September 2012 - December 2016

Master Biotechnology

Universidad Nacional de Rosario

February 2003 - August 2010

internship

Inria research centre Lille - Nord Europe

July 2009 - December 2009

Certifications
  • PhD

    universidad de buenos aires

    January 2024 - Present

Publications
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 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). p. 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). p. 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). p. 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). p. 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). p. 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). p. 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). p. 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). p. 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). p. 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). p. 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). p. 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). p. 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