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Publications

2017

Whole genome and RNA sequencing of 1,220 cancers reveals hundreds of genes deregulated by rearrangement of cis-regulatory elements

Authors
Zhang, Y; Chen, F; Fonseca, NA; He, Y; Fujita, M; Nakagawa, H; Zhang, Z; Brazma, A; Creighton, CJ;

Publication

Abstract
AbstractUsing a dataset of somatic Structural Variants (SVs) in cancers from 2658 patients—1220 with corresponding gene expression data—we identified hundreds of genes for which the nearby presence (within 100kb) of an SV breakpoint was associated with altered expression. For the vast majority of these genes, expression was increased rather than decreased with corresponding SV event. Well-known up-regulated cancer-associated genes impacted by this phenomenon included TERT, MDM2, CDK4, ERBB2, CD274, PDCD1LG2, and IGF2. SVs upstream of TERT involved ~3% of cancer cases and were most frequent in liver-biliary, melanoma, sarcoma, stomach, and kidney cancers. SVs associated with up-regulation of PD1 and PDL1 genes involved ~1% of non-amplified cases. For many genes, SVs were significantly associated with either increased numbers or greater proximity of enhancer regulatory elements near the gene. DNA methylation near the gene promoter was often increased with nearby SV breakpoint, which may involve inactivation of repressor elements.AbbreviationsPCAWGthe Pan-Cancer Analysis of Whole Genomes projectSVStructural Variant

2017

Introduction to the special issue

Authors
Valls, MG; Ferreira, LL;

Publication
SIGBED Rev.

Abstract

2017

Predicting outcomes of gastric endoscopic submucosal dissection using a Bayesian approach: a step for individualized risk assessment

Authors
Libanio, D; Dinis Ribeiro, M; Pimentel Nunes, P; Dias, CC; Rodrigues, PP;

Publication
ENDOSCOPY INTERNATIONAL OPEN

Abstract
Background and study aims Efficacy and adverse events probabilities influence decisions regarding the best options to manage patients with gastric superficial lesions. We aimed at developing a Bayesian model to individualize the prediction of outcomes after gastric endoscopic submucosal dissection (ESD). Patients and methods Data from 245 gastric ESD were collected, including patient and lesion factors. The two endpoints were curative resection and post-procedural bleeding (PPB). Logistic regression and Bayesian networks were built for each outcome; their predictive value was evaluated in-sample and validated through leave-one-out and cross-validation. Clinical decision support was enhanced by the definition of risk matrices, direct use of Bayesian inference software and by a developed online platform. Results ESD was curative in 85.3% and PPB occurred in 7.7% of patients. In univariate analysis, male sex, ASA status, carcinoma histology, polypoid or depressed morphology, and lesion size >= 20mm were associated with non-curative resection, while ASA status, antithrombotics and lesion size >= 20mm were associated with PPB. Naive Bayesian models presented AUROCs of similar to 80% in the derivation cohort and >= 74% in cross-validation for both outcomes. Risk matrices were computed, showing that lesions with cancer at biopsies, >= 20mm, proximal or in the middle third, and polypoid are more prone to non-curative resection. PPB risk was <5% in lesions <20mm in the absence of antithrombotics. Conclusions The derived Bayesian model presented good discriminative power in the prediction of ESD outcomes and can be used to predict individualized probabilities, improving patient information and supporting clinical and management decisions.

2017

An Environment for Studying Visual Emotion Perception

Authors
Carneiro, D; Rocha, H; Novais, P;

Publication
AMBIENT INTELLIGENCE- SOFTWARE AND APPLICATIONS- 8TH INTERNATIONAL SYMPOSIUM ON AMBIENT INTELLIGENCE (ISAMI 2017)

Abstract
Visual emotion perception is the ability of recognizing and identifying emotions through the visual interpretation of a situation or environment. In this paper we propose an innovative environment for supporting this type of studies, aimed at replacing current pencil-and-paper approaches. Besides automatizing the whole process, this environment provides new features that can enrich the study of emotion perception. These new features are especially interesting for the field of Human-Compute Interaction and Affective computing as they quantify the effects of experiencing different emotional dimensions on the individual's interaction with the computer.

2017

Quality of Service on the Arrowhead Framework

Authors
Albano, M; Barbosa, PM; Silva, J; Duarte, R; Ferreira, LL; Delsing, J;

Publication
2017 IEEE 13TH INTERNATIONAL WORKSHOP ON FACTORY COMMUNICATION SYSTEMS (WFCS 2017)

Abstract
Quality of Service (QoS) is an important enabler for communication in industrial environments. The Arrowhead Framework was created to support local cloud functionalities for automation applications by means of a Service Oriented Architecture. To this aim, the framework offers a number of services that ease application development, among them the QoSSetup and the Monitor services, the first used to verify and configure QoS in the local cloud, and the second for online monitoring of QoS. This paper describes how the QoSSetup and Monitor services are provided in a Arrowhead-compliant System of Systems, detailing both the principles and algorithms employed, and how the services are implemented. Experimental results are provided, from a demonstrator built over a real-time Ethernet network.

2017

Disturbance rejection improvement for the sliding mode smith predictor based on bio-inspired tuning

Authors
Oliveira, J; Boaventura Cunha, J; Oliveira, PM;

Publication
Lecture Notes in Electrical Engineering

Abstract
This paper addresses a strategy to improve disturbance rejection for the Sliding Mode Controller designed in a Smith Predictor scheme (SMC-SP), with its parameters tuned through the bio-inspired search algorithm—Particle Swarm Optimization (PSO). Conventional SMC-SP is commonly based on tuning equations derived from step response identification, when First Order Plus Dead Time models (FOPDT) are considered and therefore controller parameters are previously set. Online PSO tuning based on minimization of the Integral of Time Absolute Error (ITAE) can provide faster recovery from external disturbances without significant increase of energy consumption, and the Sliding Mode feature deals with possible model mismatch. Simulation results for time delayed systems corroborating these benefits are presented. © Springer International Publishing Switzerland 2017.

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