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.
T. Obafemi-Ajayi et al., "Genetic Variant Analysis of Boys with Autism: A Pilot Study on Linking Facial Phenotype to Genotype," Proceedings of the 2017 IEEE International Conference on Bioinformatics and Biomedicine (2017, Kansas City, MO), pp. 253-257, Institute of Electrical and Electronics Engineers (IEEE), Nov 2017.
The definitive version is available at https://doi.org/10.1109/BIBM.2017.8217658
2017 IEEE International Conference on Bioinformatics and Biomedicine, BIBM (2017: Nov. 13-16, Kansas City, MO)
Mathematics and Statistics
Electrical and Computer Engineering
Intelligent Systems Center
Second Research Center/Lab
Center for High Performance Computing Research
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)
Article - Conference proceedings
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01 Nov 2017