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The Technology and Innovation Unit of the National Institute of Health: A sequencing and bioinformatics core facility specializing in public health genomics

Publication . Silva, Catarina; Ataíde Sampaio, Daniel; Mendonça, Joana; Carpinteiro, Dina; Duarte, Sílvia; Barreiro, Paula; Isidro, Joana; Machado, Miguel; Vieira, Luís

The National Institute of Health (INSA) has a long tradition in investigating the molecular etiology of genetic and complex diseases. These activities greatly benefit from centralized sequencing services provided by the Technology and Innovation Unit (UTI). Its mission is to perform sequencing and genotyping assays in the framework of research, diagnosis and epidemiological surveillance, as well as to implement data analysis pipelines for the study of human gene variants. The equipment portfolio includes a NextSeq 550, a MiSeq, two 3500 AB Genetic Analyzers, a Fragment Analyzer and a 7500 Real-time PCR system. UTI provides results for average of 36.000 sequencing/fragment samples per year. The team has already performed >300 small genome, amplicon, gene panel (including clinical exome), 16S rRNA gene and RNA/microRNA next-generation sequencing assays for INSA and for several Universities in the scope of scientific collaborations. Technical procedures are conducted under a quality control system that includes external quality assessment for next-generation sequencing/Sanger sequencing and ISO 15189 accreditation for Sanger sequencing. UTI plays a key role in public health genomics, providing state-of-the-art equipment, centralized resources, technical expertise and short response times.

2019-10-28Conference object

Open access

Transcontinental dissemination of the L2b/D-Da recombinant Chlamydia trachomatis Lymphogranuloma venereum (LGV) strain: need of broad multi-country molecular surveillance

Publication . Borges, Vítor; Isidro, Joana; Correia, Cristina; Cordeiro, Dora; Vieira, Luís; Lodhia, Zohra; Fernandes, Cândida; Rodrigues, Ana Maria; Azevedo, Jacinta; Alves, João; Roxo, João; Rocha, Miguel; Côrte-Real, Rita; Toscano, Cristina; Pessanha, Maria Ana; Nissan, Israel; Pilo, Shlomo; Rorman, Efrat; Dveyrin, Zeev; Paitan, Yossi; Paran, Haim; Wagner-Kolasko, Gal; Beirnes, Jennifer; Gibbons, Suzanne; Severini, Alberto; Borrego, Maria José; Gomes, João Paulo

Previously, we identified a Chlamydia trachomatis Lymphogranuloma venereum (LGV) recombinant strain possessing a unique non-LGV ompA genotype. Here, culture-independent genome sequencing confirms its circulation in Europe, Middle East and North America, and unveils genetic evidence of emergence of antibiotic resistance. Multi-country and systematic molecular surveillance is needed.

2021-08-16Journal article

Restricted access

Combined cytotoxic and genotoxic effects of ochratoxin A and fumonisin B1 in human kidney and liver cell models

Publication . Pinhão, Mariana; Tavares, Ana Maria; Loureiro, Susana; Louro, Henriqueta; Alvito, Paula; Silva, Maria João

Food products can be contaminated by several fungi species and each species may produce different mycotoxins, leading to human combined exposure. Although predictions about the joint toxic effects of mycotoxins can be made from their individual toxicities, experimental data is still limited to allow a reliable hazard assessment. Thus, this study aimed to characterize the combined cytotoxic and genotoxic effects of ochratoxin A (OTA) and fumonisin B1 (FB1) in cell lines representative of their target organs, kidney and liver. Interactions were ascertained using mathematical extensions to the reference models of concentration addition and independent action. Cytotoxicity (MTT assay) data modeling revealed a synergistic pattern for low doses of both FB1 and OTA shifting to antagonism at higher concentration levels, irrespectively of the reference model applied. Concerning genotoxicity assessment, neither OTA nor FB1, individually or in combination, induced a prominent increase in DNA damage (comet assay) or oxidative DNA damage (FPG-comet assay). In conclusion, this study revealed a synergistic cytotoxic effect for OTA and FB1 at low concentration levels. Given that human co-exposure to these two mycotoxins is probable to occur at low doses, these results raise concerns regarding their potential health outcomes that seem to differ from those predicted by an additive model.

2020-10Journal article

Restricted access