Performance comparison of bench-top next generation sequencers using microdroplet PCR-based enrichment for targeted sequencing in patients with autism spectrum disorder

PLoS One. 2013 Sep 16;8(9):e74167. doi: 10.1371/journal.pone.0074167. eCollection 2013.

Abstract

Next-generation sequencing (NGS) combined with enrichment of target genes enables highly efficient and low-cost sequencing of multiple genes for genetic diseases. The aim of this study was to validate the accuracy and sensitivity of our method for comprehensive mutation detection in autism spectrum disorder (ASD). We assessed the performance of the bench-top Ion Torrent PGM and Illumina MiSeq platforms as optimized solutions for mutation detection, using microdroplet PCR-based enrichment of 62 ASD associated genes. Ten patients with known mutations were sequenced using NGS to validate the sensitivity of our method. The overall read quality was better with MiSeq, largely because of the increased indel-related error associated with PGM. The sensitivity of SNV detection was similar between the two platforms, suggesting they are both suitable for SNV detection in the human genome. Next, we used these methods to analyze 28 patients with ASD, and identified 22 novel variants in genes associated with ASD, with one mutation detected by MiSeq only. Thus, our results support the combination of target gene enrichment and NGS as a valuable molecular method for investigating rare variants in ASD.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Child Development Disorders, Pervasive / genetics*
  • High-Throughput Nucleotide Sequencing / methods*
  • Humans
  • Polymerase Chain Reaction / methods*

Grants and funding

Research grants from the Ministry of Health, Labour and Welfare: the Japan Science and Technology Agency: and the Strategic Research Program for Brain Sciences, Grant-in-Aid for Scientific Research on Innovative Areas (Transcription cycle) from the Ministry of Education, Culture, Sports, Science and Technology of Japan, Grant-in-Aid for Scientific Research from Japan Society for the Promotion of Science, Grant-in-Aid for Young Scientist from Japan Society for the Promotion of Science, and Grant from the Takeda Science Foundation. The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript.