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As a Bioinformatics MSc graduate, I am dedicated to bridging the gap between biology and informatics. My focus is on leveraging computational tools to address biological challenges while remaining mindful of the limitations inherent in informatics. Since joining the Genomic Diseases Group at the National Institute of Health, Doutor Ricardo Jorge, I have honed my skills in developing precise and efficient methods for identifying and categorizing pathogenic variants and pinpointing candidate genes. My current objective is to enhance genomic medicine by integrating these advancements, ensuring that our findings translate into real-world applications that improve patient care. I am passionate about using bioinformatics to contribute to the understanding of complex biological problems and drive innovation in genomic research.
Identification

Personal identification

Full name
Joana Rita Vieira Fino

Citation names

  • Fino, Joana

Author identifiers

Ciência ID
DE1B-2588-B3A8
ORCID iD
0000-0002-3266-9011

Languages

Language Speaking Reading Writing Listening Peer-review
Portuguese Advanced (C1) Advanced (C1) Advanced (C1) Advanced (C1)
English Advanced (C1) Proficiency (C2) Proficiency (C2) Proficiency (C2)
Education
Degree Classification
2014
Concluded
Bioinformática e Biologia Computacional (Mestrado)
Major in Área de especialização: Bioinformática
Universidade de Lisboa Faculdade de Ciências, Portugal
"Analysis of RNA-seq data from the interaction of Coffea spp. - Colletotrichum kahawae" (THESIS/DISSERTATION)
16 valores
2011
Concluded
Biologia (Licenciatura)
Universidade de Aveiro, Portugal
"n/a" (THESIS/DISSERTATION)
13
Affiliation

Other Careers

Category
Host institution
Employer
2019/02/15 - Current Técnico Superior (Técnico Superior) Instituto Nacional de Saúde Doutor Ricardo Jorge, Portugal
Instituto Nacional de Saúde Doutor Ricardo Jorge, Portugal

Others

Category
Host institution
Employer
2015/05/15 - 2018/06/30 Research fellow in the research project HMSP-ICT/0016/2013 “Citogenética de Próxima Geração Irrompe nos Cuidados de Saúde e Contribui para Anotação do Genoma Humano” Instituto Nacional de Saúde Doutor Ricardo Jorge, Portugal
2014/08/01 - 2015/04/30 Research fellow in the research project PTDC/AGR-GPL/116923/2010 “VitiShade - Abscission of seedless grapes: shedding the genes from the shade” Instituto de Investigação Científica Tropical, Portugal
2013/01/01 - 2014/07/31 Research fellow in the research project PTDC/AGR-GPL/112217/2009 “Pesquisa dos mecanismos de defesa do cafeeiro associados à sua resistência a Colletotrichum kahawae” Centro de Investigação das Ferrugens do Cafeeiro, Portugal
Projects

Contract

Designation Funders
2015 - 2018 “Citogenética de Próxima Geração Irrompe nos Cuidados de Saúde e Contribui para Anotação do Genoma Humano”
HMSP-ICT/0016/2013
Research Fellow
Instituto Nacional de Saúde Doutor Ricardo Jorge, Portugal
Concluded
2014 - 2015 “VitiShade - Abscission of seedless grapes: shedding the genes from the shade”
PTDC/AGR-GPL/116923/2010
Research Fellow
Instituto de Investigação Científica Tropical, Portugal
Concluded
2013 - 2014 “Pesquisa dos mecanismos de defesa do cafeeiro associados à sua resistência a Colletotrichum kahawae”
PTDC/AGR-GPL/112217/2009
Research Fellow
Centro de Investigação das Ferrugens do Cafeeiro, Portugal
Concluded
Outputs

Publications

Conference paper
  1. Inês Carvalho; Freixo, João P.; Marques, Mariana; Cardoso, Manuela; Fino, Joana; Marques Barbara; Michael Talkowski; et al. "Detection of de novo structural chromosomal rearrangements with nucleotide level resolution for assessment of their clinical outcome in prenatal diagnosis.". Paper presented in European Human Genetics Conference, Copenhaga, 2017.
  2. David, Dezso; Freixo, João P.; Marques Barbara; Carvalho, Inês; Nataliya Tkachenko; Natalia Oliva-Teles; Marques, Mariana; et al. "Early results of next-gen cytogenetics implementation in Portugal". Paper presented in European Human Genetics Conference 2016, Barcelona, 2016.
  3. Fino, Joana. "Transcriptional profiling of compatible and incompatible coffee – Colletotrichum kahawae interactions through RNA-seq analysis". Paper presented in The 25th International Conference on Coffee Science, 2014.
  4. Fino, Joana. "Validation of RT-qPCR reference genes for expression data analysis in Colletotrichum kahawae interactions through RNA-seq analysis.". Paper presented in The 25th International Conference on Coffee Science, 2014.
    Published
Conference poster
  1. Fino, Joana; David, Dezso. "The complexity of Identification of pathogenic variants.". Paper presented in 3rd Symposium of the National Research infrastructure for Genome Sequencing and Analysis., 2023.
  2. Fino, Joana; Marques, Barbara; Dong, Zirui; David, Dezso. "SVInterpreter: a web-based tool for structural variants inspection and identification of possible disease-causing candidate genes". Paper presented in European Society of Human Genetics Conference 2021, 2021.
  3. Fino, Joana; David, Dezso. "TAD-GConTool and CNV-ConTool to assist prediction of phenotypic outcome of chromosomal rearrangements". Paper presented in Bioinformatic Open Days 2020, 2020.
  4. Freixo, João P.; Marques, Mariana; Fino, Joana; Michael Talkowski; Morton, Cynthia C.; David, Dezso. "Disruption of WDR26 by a translocation breakpoint confirms its causal role in Skraban-Deardorff and 1q41q42 microdeletion syndromes.". Paper presented in European Human Genetics Conference, 2017.
Journal article
  1. David, Dezso; Fino, Joana; Oliveira, Renata; Dória, Sofia; Morton, Cynthia C.. "Balanced chromosomal rearrangements implicate YIPF5 and SPATC1L in non-obstructive oligoasthenozoospermia and oligozoospermia and of a derivative chromosome 22 in recurrent miscarriage". Gene 887 (2023): 147737. https://doi.org/10.1016/j.gene.2023.147737.
    Published • 10.1016/j.gene.2023.147737
  2. Da Silva, Jorge Diogo; Oliva-Teles, Natália; Tkachenko, Nataliya; Fino, Joana; Marques, Mariana; Fortuna, Ana Maria; David, Dezso. "A Novel Frameshift CHD4 Variant Leading to Sifrim-Hitz-Weiss Syndrome in a Proband with a Subclinical Familial t(17;19) and a Large dup(2)(q14.3q21.1)". Biomedicines 11 1 (2022): 12. https://doi.org/10.3390/biomedicines11010012.
    10.3390/biomedicines11010012
  3. Fino, Joana; Marques, Bárbara; Dong, Zirui; David, Dezso. "SVInterpreter: A Comprehensive Topologically Associated Domain-Based Clinical Outcome Prediction Tool for Balanced and Unbalanced Structural Variants". Frontiers in Genetics 12 (2021): http://dx.doi.org/10.3389/fgene.2021.757170.
    Open access • 10.3389/fgene.2021.757170
  4. David, Dezso; Freixo, João P.; Fino, Joana; Carvalho, Inês; Marques, Mariana; Cardoso, Manuela; Piña-Aguilar, Raul E.; Morton, Cynthia C.. "Comprehensive clinically oriented workflow for nucleotide level resolution and interpretation in prenatal diagnosis of de novo apparently balanced chromosomal translocations in their genomic landscape". Human Genetics (2020): http://dx.doi.org/10.1007/s00439-020-02121-x.
    Published • 10.1007/s00439-020-02121-x
  5. David, Dezso; Anand, Deepti; Araújo, Carlos; Gloss, Brian; Fino, Joana; Dinger, Marcel; Lindahl, Päivi; et al. "Identification of OAF and PVRL1 as candidate genes for an ocular anomaly characterized by Peters anomaly type 2 and ectopia lentis". Experimental Eye Research 168 (2018): 161-170. http://dx.doi.org/10.1016/j.exer.2017.12.012.
    Published • 10.1016/j.exer.2017.12.012
  6. Pina-Martins, Francisco; Silva, Diogo N.; Fino, Joana; Paulo, Octávio S.. "Structure_threader : An improved method for automation and parallelization of programs structure , fastStructure and MavericK on multicore CPU systems". Molecular Ecology Resources 17 6 (2017): e268-e274. http://dx.doi.org/10.1111/1755-0998.12702.
    Published • 10.1111/1755-0998.12702
  7. Fino, Joana. "Deep analysis of wild Vitis flower transcriptome reveals unexplored genome regions associated with sex specification". Plant Molecular Biology (2017):
    10.1007/s11103-016-0553-9
  8. Fino, Joana. "Comparative Validation of Conventional and RNA-Seq Data-Derived Reference Genes for qPCR Expression Studies of Colletotrichum kahawae". Plos One (2016):
    10.1371/journal.pone.0150651
  9. Fino, Joana. "Shared and divergent pathways for flower abscission are triggered by gibberellic acid and carbon starvation in seedless Vitis vinifera L". BMC Plant Biology (2016):
    10.1186/s12870-016-0722-7
  10. Fino, Joana. "Molecular candidates for early-stage flower-to-fruit transition in stenospermocarpic table grape (Vitis vinifera L.) inflorescences ascribed by differential transcriptome and metabolome profiles". Plant Science (2016):
    10.1016/j.plantsci.2015.12.009
Activities

Oral presentation

Presentation title Event name
Host (Event location)
2017/11/16 Disruption of WDR26 by a translocation breakpoint confirms its causal role in Skraban-Deardorff and 1q41q42 microdeletion syndromes 21ª Reunião Anual da Sociedade Portuguesa de Genética Humana
Sociedade Portuguesa de Genética Humana (Almada, Portugal)
2016/02/26 Citogenética de Próxima Geração: Implementação e primeiros resultados em Portugal. XLV Conferências de Genética Doutor Jacinto Magalhães XLV Conferências de Genética Doutor Jacinto Magalhães
Ordem dos médicos (Porto, Portugal)

Course / Discipline taught

Academic session Degree Subject (Type) Institution / Organization
2014/01/06 - 2014/01/10 An introducing level course on Python for Biologists. (Outros) Universidade de Lisboa Faculdade de Ciências, Portugal