Dataset Information

A Data Fusion Approach to Enhance Association Study in Epilepsy.

ABSTRACT: Among the scientific challenges posed by complex diseases with a strong genetic component, two stand out. One is unveiling the role of rare and common genetic variants; the other is the design of classification models to improve clinical diagnosis and predictive models for prognosis and personalized therapies. In this paper, we present a data fusion framework merging gene, domain, pathway and protein-protein interaction data related to a next generation sequencing epilepsy gene panel. Our method allows integrating association information from multiple genomic sources and aims at highlighting the set of common and rare variants that are capable to trigger the occurrence of a complex disease. When compared to other approaches, our method shows better performances in classifying patients affected by epilepsy.

SUBMITTER: Marini S

PROVIDER: S-EPMC5161322 | biostudies-literature | 2016

REPOSITORIES: biostudies-literature

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A Data Fusion Approach to Enhance Association Study in Epilepsy.

Marini Simone S Limongelli Ivan I Rizzo Ettore E Malovini Alberto A Errichiello Edoardo E Vetro Annalisa A Da Tan T Zuffardi Orsetta O Bellazzi Riccardo R

PloS one 20161216 12

Among the scientific challenges posed by complex diseases with a strong genetic component, two stand out. One is unveiling the role of rare and common genetic variants; the other is the design of classification models to improve clinical diagnosis and predictive models for prognosis and personalized therapies. In this paper, we present a data fusion framework merging gene, domain, pathway and protein-protein interaction data related to a next generation sequencing epilepsy gene panel. Our method ...[more]

PMID: 27984588

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Project description:A key area of research in epilepsy neurological disorder is the characterization of epileptic networks as they form and evolve during seizure events. In this paper, we describe the development and application of an integrative workflow to analyze functional and structural connectivity measures during seizure events using stereotactic electroencephalogram (SEEG) and diffusion weighted imaging data (DWI). We computed structural connectivity measures using electrode locations involved in recording SEEG signal data as reference points to filter fiber tracts. We used a new workflow-based tool to compute functional connectivity measures based on non-linear correlation coefficient, which allows the derivation of directed graph structures to represent coupling between signal data. We applied a hierarchical clustering based network analysis method over the functional connectivity data to characterize the organization of brain network into modules using data from 27 events across 8 seizures in a patient with refractory left insula epilepsy. The visualization of hierarchical clustering values as dendrograms shows the formation of connected clusters first within each insulae followed by merging of clusters across the two insula; however, there are clear differences between the network structures and clusters formed across the 8 seizures of the patient. The analysis of structural connectivity measures showed strong connections between contacts of certain electrodes within the same brain hemisphere with higher prevalence in the perisylvian/opercular areas. The combination of imaging and signal modalities for connectivity analysis provides information about a patient-specific dynamical functional network and examines the underlying structural connections that potentially influences the properties of the epileptic network. We also performed statistical analysis of the absolute changes in correlation values across all 8 seizures during a baseline normative time period and different seizure events, which showed decreased correlation values during seizure onset; however, the changes during ictal phases were varied.

Project description:ObjectiveAttention-deficit/hyperactivity disorder (ADHD) is a childhood-onset neurodevelopmental disorder with a prevalence ranging from 6.1 to 9.4%. The main symptoms of ADHD are inattention, hyperactivity, impulsivity, and even destructive behaviors that may have a long-term negative influence on learning performance or social relationships. Early diagnosis and treatment provide the best chance of reducing and managing symptoms. Currently, ADHD diagnosis relies on behavioral observations and ratings by clinicians and parents. Medical diagnosis of ADHD was reported to be delayed because of a global shortage of well-trained clinicians, the heterogeneous nature of ADHD, and combined comorbidities. Therefore, alternative ways to increase the efficiency of early diagnosis are needed. Previous studies used behavioral and neurophysiological data to assess patients with ADHD, yielding an accuracy range from 56.6% to 92%. Several factors were shown to affect the detection rate, including methods and tasks used and the number of electroencephalogram (EEG) channels. Given that children with ADHD have difficulty sustaining attention, in this study, we tested whether data from multiple tasks with different difficulties and prolonged experiment times can probe the levels of brain resources engaged during task performance and increase ADHD detection. Specifically, we proposed a Deep Neural Network-based (DNN) fusion model of multiple tasks to enhance the detection of ADHD.Methods & resultsForty-nine children with ADHD and thirty-two typically developing children were recruited. Analytic results show that the fusion of multi-task neurophysiological data can increase the separation rate to 89%, whereas a single data type can only achieve a best accuracy of 81%. Moreover, the use of multiple tasks helps distinguish between children with ADHD and typically developing children. Our results suggest that different neurophysiological models from multiple tasks can provide essential information to assist in ADHD screening. In conclusion, the proposed model offers a more efficient, and accurate alternative for early clinical diagnosis and management of ADHD. The application of artificial intelligence and multimodal neurophysiological data in clinical settings sets a precedent for digital health, paving the way for future advancements in the field.

Dataset Information

A Data Fusion Approach to Enhance Association Study in Epilepsy.

Publications

A Data Fusion Approach to Enhance Association Study in Epilepsy.

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