Genetic Variant Analysis of Boys with Autism: A Pilot Study on Linking Facial Phenotype to Genotype


This work examines the validity of facial phenotypes as Autism Spectrum Disorders (ASD) biomarkers in boys with essential autism. A family-based association analysis framework is presented that uses previously identified facially-delineated (FD) clusters to examine relationship between FD clusters and known ASD genes. The hypothesis is that there are certain genetic variants, single nucleotide polymorphisms (SNP), specific to the FD clusters. Although statistical significance was not established, the results identified some candidate SNPs unique to each of the FD clusters that could indicate an underlying etiological difference. Further, recommendations are provided for larger-scale studies that could utilize the analysis framework presented.

Meeting Name

2017 IEEE International Conference on Bioinformatics and Biomedicine, BIBM (2017: Nov. 13-16, Kansas City, MO)


Mathematics and Statistics

Second Department

Electrical and Computer Engineering

Research Center/Lab(s)

Intelligent Systems Center

Second Research Center/Lab

Center for High Performance Computing Research


We acknowledge the support of Missouri University of Science and Technology (S&T) Intelligent Systems Center and S&T ASD Visualization Chancellor Innovation grant.

Keywords and Phrases

Bioinformatics; Biomarkers; Finite difference method; Association analysis; Autism; Autism spectrum disorders; Facial phenotype; Genetics; Single-nucleotide polymorphisms; SNPs; Statistical significance; Diseases; Family-based association testing

International Standard Book Number (ISBN)


Document Type

Article - Conference proceedings

Document Version


File Type





© 2017 Institute of Electrical and Electronics Engineers (IEEE), All rights reserved.

Publication Date

01 Nov 2017