Bioinformatics Pipeline for Human Papillomavirus Short Read Genomic Sequences Classification Using Support Vector Machine

Viruses

MangalathuS. Rajeevan¹  ElizabethR. Unger¹  Tengguo Li¹  Mark Borodovsky²  Alexandre Lomsadze² 

[1] Division of High-Consequence Pathogens & Pathology, Centers for Disease Control and Prevention, Atlanta, GA 30329, USA;Wallace H. Coulter Department of Biomedical Engineering, Georgia Tech, Atlanta, GA 30332, USA;

关键词: HPV typing;    HPV whole genome sequencing;    target enrichment;    h classification;    bioinformatics pipeline;   

DOI  :  10.3390/v12070710

来源: DOAJ

【 摘 要 】

We recently developed a test based on the Agilent SureSelect target enrichment system capturing genomic fragments from 191 human papillomaviruses (HPV) types for Illumina sequencing. This enriched whole genome sequencing (eWGS) assay provides an approach to identify all HPV types in a sample. Here we present a machine learning algorithm that calls HPV types based on the eWGS output. The algorithm based on the support vector machine (SVM) technique was trained on eWGS data from 122 control samples with known HPV types. The new algorithm demonstrated good performance in HPV type detection for designed samples with 25 or greater HPV plasmid copies per sample. We compared the results of HPV typing made by the new algorithm for 261 residual epidemiologic samples with the results of the typing delivered by the standard HPV Linear Array (LA). The agreement between methods (97.4%) was substantial (kappa= 0.783). However, the new algorithm identified additionally 428 instances of HPV types not detectable by the LA assay by design. Overall, we have demonstrated that the bioinformatics pipeline is an accurate tool for calling HPV types by analyzing data generated by eWGS processing of DNA fragments extracted from control and epidemiological samples.

【 授权许可】

Unknown