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I am interested in the gene-disease association studies in humans. Current studies include projects on gene-disease association studies. 1) In Diabetic Retinopathy, we seek to identify molecular markers correlated with phenotypes of disease progression (project Correlation phenotype/genotype in diabetic retinopathy) and rare mutations, through exome sequencing (DoIT). 2) In primary congenital glaucoma, we are searching for new genes related to the disease in the exomes of patients that do not have mutations in the single gene associated with the disease (Ph.D. S. Carmona). 3) We are additionally working on the improvement of mutation detection in Mendelian diseases in the project In2Genome.
In a parallel field, I am also interested in the molecular mechanisms of disease in forest trees. Current projects involve the study of Infection mechanisms of the nematode Bursaphelenchus xylophilus, the causal agent of pine wilt disease using comparative transcriptomics (Post-Doc Joana Sá), and the role of rhizosphere microbiome in Quercus suber decline (Ph.D. Diogo Pinho).
Another area of interest, coming from the early stages of my research is Biotechnology of microbes from extreme environments. Current studies address the Molinate degradation pathway in G. molinativorax ON4T: an open door for white biotechnology (PosDoc projects of Rita Lopes, FEUP), Seazyme: a metagenomic study to identify enzymes of bacterial origin with biotechnological interest from Azorean marine extreme environments (Ph.D. Teresa Vaz, University of Azores) and H2020 Metafluidics- Advanced toolbox for rapid and cost-effective functional metagenomic screening - microbiology meets microfluidics.
Simultaneously I’m responsible for the scientific and technical management of Genoinseq, the next generation sequencing facility of the Center for Neurosciences and Cell Biology, University of Coimbra and Biocant running the semiconductor-based Ion Proton (Life Technologies – Thermo Scientific) and MiSeq (Illumina) platforms. This sequencing facility was the first NGS platform in Portugal and operates since 2007 (www.genoinseq.com). It has a team of specialists in different fields, covering expertise from experimental design, sample sequencing to bioinformatics data analysis. The facility bioinformaticians develops and implement software solutions for data analysis, user-friendly interfaces and provide guidance through the analysis of the data generated. Genoinseq provides high throughput sequencing as a service or research collaboration to academy and companies. The facility portfolio includes exome sequencing and analysis; SNP genotyping; sequencing and annotation of prokaryotic and eukaryotic genomes; sequencing and annotation animal and plant transcriptomes and RNA-Seq, microRNAs and exosomes; marine environment metatranscriptomes, microbiomes of environmental community samples, metagenomes.
Research Interests
Papers共 126 篇Author StatisticsCo-AuthorSimilar Experts
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SCIENTIFIC REPORTSno. 1 (2024)
Tina Keller-Costa, Selene Madureira, Ana S. Fernandes, Lydia Kozma, Jorge M. S. Goncalves,Cristina Barroso,Conceicao Egas,Rodrigo Costa
Luciana Albuquerque,Tomeu Viver, Cristina Barroso, Ricardo Claudino, Mariana Galvan, Gabriela Simões, Alexandre Lobo-da-Cunha,Conceição Egas
crossref(2024)
Luciana Albuquerque,Tomeu Viver,Cristina Barroso, Ricardo Claudino, Mariana Galvan, Gabriela Simoes,Alexandre Lobo-da-Cunha,Conceicao Egas
JOURNAL OF INTEGRATIVE BIOINFORMATICSno. 2 (2024)
BMC PLANT BIOLOGYno. 1 (2024)
GENOMICSno. 5 (2024)
Clinical Nutrition ESPEN (2023): 547-548
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Author Statistics
#Papers: 125
#Citation: 2283
H-Index: 24
G-Index: 46
Sociability: 6
Diversity: 3
Activity: 36
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