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Publicações

Publicações por Nuno Fonseca

2020

The InBIO Barcoding Initiative Database: contribution to the knowledge on DNA barcodes of Iberian Plecoptera

Autores
Ferreira, S; de Figueroa, JMT; Martins, FMS; Verissimo, J; Quaglietta, L; Grosso Silva, JM; Lopes, PB; Sousa, P; Pauperio, J; Fonseca, NA; Beja, P;

Publicação
BIODIVERSITY DATA JOURNAL

Abstract
Background The use of DNA barcoding allows unprecedented advances in biodiversity assessments and monitoring schemes of freshwater ecosystems; nevertheless, it requires the construction of comprehensive reference collections of DNA sequences that represent the existing biodiversity. Plecoptera are considered particularly good ecological indicators and one of the most endangered groups of insects, but very limited information on their DNA barcodes is available in public databases. Currently, less than 50% of the Iberian species are represented in BOLD. New information The InBIO Barcoding Initiative Database: contribution to the knowledge on DNA barcodes of Iberian Plecoptera dataset contains records of 71 specimens of Plecoptera. All specimens have been morphologically identified to species level and belong to 29 species in total. This dataset contributes to the knowledge on the DNA barcodes and distribution of Plecoptera from the Iberian Peninsula and it is one of the IBI database public releases that makes available genetic and distribution data for a series of taxa. The species represented in this dataset correspond to an addition to public databases of 17 species and 21 BINs. Fifty-eight specimens were collected in Portugal and 18 in Spain during the period of 2004 to 2018. All specimens are deposited in the IBI collection at CIBIO, Research Center in Biodiversity and Genetic Resources and their DNA barcodes are publicly available in the Barcode of Life Data System (BOLD) online database. The distribution dataset can be freely accessed through the Global Biodiversity Information Facility (GBIF).

2020

The InBIO Barcoding Initiative Database: DNA barcodes of Portuguese Diptera 01

Autores
Ferreira, SA; Andrade, R; Goncalves, AR; Sousa, P; Pauperio, J; Fonseca, NA; Beja, P;

Publicação
BIODIVERSITY DATA JOURNAL

Abstract
Background The InBIO Barcoding Initiative (IBI) Diptera 01 dataset contains records of 203 specimens of Diptera. All specimens have been morphologically identified to species level, and belong to 154 species in total. The species represented in this dataset correspond to about 10% of continental Portugal dipteran species diversity. All specimens were collected north of the Tagus river in Portugal. Sampling took place from 2014 to 2018, and specimens are deposited in the IBI collection at CIBIO, Research Center in Biodiversity and Genetic Resources. New information This dataset contributes to the knowledge on the DNA barcodes and distribution of 154 species of Diptera from Portugal and is the first of the planned IBI database public releases, which will make available genetic and distribution data for a series of taxa. All specimens have their DNA barcodes made publicly available in the Barcode of Life Data System (BOLD) online database and the distribution dataset can be freely accessed through the Global Biodiversity Information Facility (GBIF).

2020

Tumors induce de novo steroid biosynthesis in T cells to evade immunity

Autores
Mahata, B; Pramanik, J; van der Weyden, L; Polanski, K; Kar, G; Riedel, A; Chen, X; Fonseca, NA; Kundu, K; Campos, LS; Ryder, E; Duddy, G; Walczak, I; Okkenhaug, K; Adams, DJ; Shields, JD; Teichmann, SA;

Publicação
Nature Communications

Abstract

2021

Tumour gene expression signature in primary melanoma predicts long-term outcomes

Autores
Garg, M; Couturier, DL; Nsengimana, J; Fonseca, NA; Wongchenko, M; Yan, YB; Lauss, M; Jonsson, GB; Newton Bishop, J; Parkinson, C; Middleton, MR; Bishop, DT; McDonald, S; Stefanos, N; Tadross, J; Vergara, IA; Lo, S; Newell, F; Wilmott, JS; Thompson, JF; Long, GV; Scolyer, RA; Corrie, P; Adams, DJ; Brazma, A; Rabbie, R;

Publicação
NATURE COMMUNICATIONS

Abstract
Adjuvant systemic therapies are now routinely used following resection of stage III melanoma, however accurate prognostic information is needed to better stratify patients. We use differential expression analyses of primary tumours from 204 RNA-sequenced melanomas within a large adjuvant trial, identifying a 121 metastasis-associated gene signature. This signature strongly associated with progression-free (HR=1.63, p=5.24 x 10(-5)) and overall survival (HR=1.61, p=1.67 x 10(-4)), was validated in 175 regional lymph nodes metastasis as well as two externally ascertained datasets. The machine learning classification models trained using the signature genes performed significantly better in predicting metastases than models trained with clinical covariates (p(AUROC) = 7.03 x 10(-4)), or published prognostic signatures (p(AUROC) < 0.05). The signature score negatively correlated with measures of immune cell infiltration (=-0.75, p<2.2 x 10(-16)), with a higher score representing reduced lymphocyte infiltration and a higher 5-year risk of death in stage II melanoma. Our expression signature identifies melanoma patients at higher risk of metastases and warrants further evaluation in adjuvant clinical trials. The identification of prognostic biomarkers can help stratify cancer patients. Here, the authors apply deep RNA sequencing from primary melanomas coupled with long-term clinical outcome data from a prospective multicentre phase III trial, to develop and validate a 121 metastasis-associated gene signature identifying early-stage melanoma patients at higher risk of metastasis and worse survival.

2020

A user guide for the online exploration and visualization of PCAWG data

Autores
Goldman, MJ; Zhang, J; Fonseca, NA; Cortés-Ciriano, I; Xiang, Q; Craft, B; Piñeiro-Yáñez, E; O’Connor, BD; Bazant, W; Barrera, E; Muñoz-Pomer, A; Petryszak, R; Füllgrabe, A; Al-Shahrour, F; Keays, M; Haussler, D; Weinstein, JN; Huber, W; Valencia, A; Park, PJ; Papatheodorou, I; Zhu, J; Ferretti, V; Vazquez, M;

Publicação
Nature Communications

Abstract

2020

An RNA-seq Based Machine Learning Approach Identifies Latent Tuberculosis Patients With an Active Tuberculosis Profile

Autores
Estévez, O; Anibarro, L; Garet, E; Pallares, Á; Barcia, L; Calviño, L; Maueia, C; Mussá, T; Fdez Riverola, F; Glez Peña, D; Reboiro Jato, M; López Fernández, H; Fonseca, NA; Reljic, R; González Fernández, Á;

Publicação
Frontiers in Immunology

Abstract
A better understanding of the response against Tuberculosis (TB) infection is required to accurately identify the individuals with an active or a latent TB infection (LTBI) and also those LTBI patients at higher risk of developing active TB. In this work, we have used the information obtained from studying the gene expression profile of active TB patients and their infected –LTBI- or uninfected –NoTBI- contacts, recruited in Spain and Mozambique, to build a class-prediction model that identifies individuals with a TB infection profile. Following this approach, we have identified several genes and metabolic pathways that provide important information of the immune mechanisms triggered against TB infection. As a novelty of our work, a combination of this class-prediction model and the direct measurement of different immunological parameters, was used to identify a subset of LTBI contacts (called TB-like) whose transcriptional and immunological profiles are suggestive of infection with a higher probability of developing active TB. Validation of this novel approach to identifying LTBI individuals with the highest risk of active TB disease merits further longitudinal studies on larger cohorts in TB endemic areas. © Copyright © 2020 Estévez, Anibarro, Garet, Pallares, Barcia, Calviño, Maueia, Mussá, Fdez-Riverola, Glez-Peña, Reboiro-Jato, López-Fernández, Fonseca, Reljic and González-Fernández.

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