Identification of Autistic Risk Genes Using Developmental Brain Gene Expression Data

Zhi An Huang, Yu An Huang, Zhu Hong You, Shanwen Zhang, Chang Qing Yu, Wenzhun Huang

Research output: Chapter in Book/Report/Conference proceedingConference contributionpeer-review

Abstract

Recently, the serious impairments of ASD cause a series of pending issues to increase a major burden of health and finance globally. In this work, we propose an effective convolutional neural network (CNN) - based model to identify the potential autistic risk genes based on the developmental brain gene expression profiles. Based on the 10-fold cross validations, the simulation experiments demonstrate that the proposed model shows supreme classification results as compared to the other state-of-the-art classifiers. In such an imbalanced dataset, the proposed CNN model achieves the F1-score of 63.07 ± 3.9 and the area under ROC curve of 0.6940. In case study, 70% out of the top-10 predicted risk genes have been confirmed to increase the risk of developing ASD via published literatures. The effectiveness enables our model to serve as a candidate tool for accelerating the identification of autistic genetic abnormalities.

Original languageEnglish
Title of host publicationIntelligent Computing Theories and Application - 16th International Conference, ICIC 2020, Proceedings
EditorsDe-Shuang Huang, Kang-Hyun Jo
PublisherSpringer Science and Business Media Deutschland GmbH
Pages326-338
Number of pages13
ISBN (Print)9783030608019
DOIs
StatePublished - 2020
Externally publishedYes
Event16th International Conference on Intelligent Computing, ICIC 2020 - Bari , Italy
Duration: 2 Oct 20205 Oct 2020

Publication series

NameLecture Notes in Computer Science (including subseries Lecture Notes in Artificial Intelligence and Lecture Notes in Bioinformatics)
Volume12464 LNCS
ISSN (Print)0302-9743
ISSN (Electronic)1611-3349

Conference

Conference16th International Conference on Intelligent Computing, ICIC 2020
Country/TerritoryItaly
CityBari
Period2/10/205/10/20

Keywords

  • Autism spectrum disorders (ASD)
  • Autistic biomarkers
  • Developmental brain gene expression data
  • Gene prioritization

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