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Publicações

Publicações por LIAAD

2017

Comprehensive genome and transcriptome analysis reveals genetic basis for gene fusions in cancer

Autores
Fonseca, NA; He, Y; Greger, L; Brazma, A; Zhang, Z; - PCAWG-3,;

Publicação

Abstract
Gene fusions are an important class of cancer-driving events with therapeutic and diagnostic values, yet their underlying genetic mechanisms have not been systematically characterized. Here by combining RNA and whole genome DNA sequencing data from 1188 donors across 27 cancer types we obtained a list of 3297 high-confidence tumour-specific gene fusions, 82% of which had structural variant (SV) support and 2372 of which were novel. Such a large collection of RNA and DNA alterations provides the first opportunity to systematically classify the gene fusions at a mechanistic level. While many could be explained by single SVs, numerous fusions involved series of structural rearrangements and thus are composite fusions. We discovered 75 fusions of a novel class of inter-chromosomal composite fusions, termed bridged fusions, in which a third genomic location bridged two different genes. In addition, we identified 522 fusions involving non-coding genes and 157 ORF-retaining fusions, in which the complete open reading frame of one gene was fused to the UTR region of another. Although only a small proportion (5%) of the discovered fusions were recurrent, we found a set of highly recurrent fusion partner genes, which exhibited strong 5' or 3' bias and were significantly enriched for cancer genes. Our findings broaden the view of the gene fusion landscape and reveal the general properties of genetic alterations underlying gene fusions for the first time.

2017

The risk of disabling, surgery and reoperation in Crohn's disease - A decision tree-based approach to prognosis

Autores
Dias, CC; Rodrigues, PP; Fernandes, S; Portela, F; Ministro, P; Martins, D; Sousa, P; Lago, P; Rosa, I; Correia, L; Santos, PM; Magro, F;

Publicação
PLOS ONE

Abstract
Introduction Crohn's disease (CD) is a chronic inflammatory bowel disease known to carry a high risk of disabling and many times requiring surgical interventions. This article describes a decision-tree based approach that defines the CD patients' risk or undergoing disabling events, surgical interventions and reoperations, based on clinical and demographic variables. Materials and methods This multicentric study involved 1547 CD patients retrospectively enrolled and divided into two cohorts: a derivation one (80%) and a validation one (20%). Decision trees were built upon applying the CHAIRT algorithm for the selection of variables. Results Three-level decision trees were built for the risk of disabling and reoperation, whereas the risk of surgery was described in a two-level one. A receiver operating characteristic (ROC) analysis was performed, and the area under the curves (AUC) Was higher than 70% for all outcomes. The defined risk cut-off values show usefulness for the assessed outcomes: risk levels above 75% for disabling had an odds test positivity of 4.06 [3.50-4.71], whereas risk levels below 34% and 19% excluded surgery and reoperation with an odds test negativity of 0.15 [0.09-0.25] and 0.50 [0.24-1.01], respectively. Overall, patients with B2 or B3 phenotype had a higher proportion of disabling disease and surgery, while patients with later introduction of pharmacological therapeutic (1 months after initial surgery) had a higher proportion of reoperation. Conclusions The decision-tree based approach used in this study, with demographic and clinical variables, has shown to be a valid and useful approach to depict such risks of disabling, surgery and reoperation.

2017

Gait analysis as a complementary tool in the levodopa dose decision in vascular Parkinson's disease

Autores
Gago, M; Ferreira, F; Mollaei, N; Rodrigues, M; Sousa, N; Bicho, E; Rodrigues, P;

Publicação
MOVEMENT DISORDERS

Abstract

2017

Anomaly detection through temporal abstractions on intensive care data: position paper

Autores
Gelatti, GJ; de Carvalho, APCPLF; Rodrigues, PP;

Publicação
2017 IEEE 30TH INTERNATIONAL SYMPOSIUM ON COMPUTER-BASED MEDICAL SYSTEMS (CBMS)

Abstract
A large amount of information is continuously generated in intensive health care. An analysis of these data streams can supply valuable insights to improve the monitoring of the patients. The volume, frequency and complexity of data, which come unlabeled, make their analysis a challenging task. Machine learning (ML) techniques have been successfully employed for mining data streams to extract useful knowledge for health care monitoring. It includes the detection of changes in the behavior of sensors, failures on machines or systems, and data anomalies. Anomaly (or outlier) detection is a ML task that aims to find exceptions or abnormalities in a dataset. These exceptions, in a medical context, can represent a new disease pattern, an event to be further investigated, behavior changes or potential health complications. Despite of its analysis in data streams is a challenging task, temporal abstractions techniques should help due to they deal with the management and abstraction of time based data, offering high level of visualization of each data object in its context. The aim of this paper is to review recent research in anomaly detection and temporal abstractions and discuss the application of their combination to intensive care data streams.

2017

Development and Validation of Risk Matrices for Crohn's Disease Outcomes in Patients Who Underwent Early Therapeutic Interventions (vol 11, pg 445, 2017)

Autores
Dias, CC; Rodrigues, PP; Coelho, R; Santos, PM; Fernandes, S; Lago, P; Caetano, C; Rodrigues, Â; Portela, F; Oliveira, A; Ministro, P; Cancela, E; Vieira, AI; Barosa, R; Cotter, J; Carvalho, P; Cremers, I; Trabulo, D; Caldeira, P; Antunes, A; Rosa, I; Moleiro, J; Peixe, P; Herculano, R; Gonçalves, R; Gonçalves, B; Sousa, HT; Contente, L; Morna, H; Lopes, S; Magro, F; on behalf GEDII,;

Publicação
JOURNAL OF CROHNS & COLITIS

Abstract
A previous version of this article contained minor errors in Tables 2, 3 and 4. This has now been corrected, the publisher apologises for the error. © 2016 European Crohn's and Colitis Organisation (ECCO).

2017

Bringing Bayesian networks to bedside: a web-based framework

Autores
Oliveira, R; Ferreira, J; Libanio, D; Dias, CC; Rodrigues, PP;

Publicação
2017 IEEE 30TH INTERNATIONAL SYMPOSIUM ON COMPUTER-BASED MEDICAL SYSTEMS (CBMS)

Abstract
Bayesian networks are one of the most intuitive statistical models for both estimation, classification and prediction of patients' outcomes. However, the availability of inference software in clinical settings is still limited. This work presents preliminary steps towards the creation of simple web-based forms that can access a powerful Bayesian network inference engine, making the derived models usable at bedside by both the clinicians and the patients themselves.

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