Journal Article

The new sequencer on the block: comparison of Life Technology’s Proton sequencer to an Illumina HiSeq for whole-exome sequencing

Boland, Joseph F., He, Ji, Chanock, Stephen J., Dean, Michael, Mitchell, Jason, Zhang, Xijun, Chung, Charles C., Roberson, David, Im, Kate M., Yeager, Meredith

2013

Overview

We assessed the performance of the new Life Technologies Proton sequencer by comparing whole-exome sequence data in a Centre d’Etude du Polymorphisme Humain trio (family 1463) to the Illumina HiSeq instrument. To simulate a typical user’s results, we utilized the standard capture, alignment and variant calling methods specific to each platform. We restricted data analysis to include the capture region common to both methods. The Proton produced high quality data at a comparable average depth and read length, and the Ion Reporter variant caller identified 96 % of single nucleotide polymorphisms (SNPs) detected by the HiSeq and GATK pipeline. However, only 40 % of small insertion and deletion variants (indels) were identified by both methods. Usage of the trio structure and segregation of platform-specific alleles supported this result. Further comparison of the trio data with Complete Genomics sequence data and Illumina SNP microarray genotypes documented high concordance and accurate SNP genotyping of both Proton and Illumina platforms. However, our study underscored the problem of accurate detection of indels for both the Proton and HiSeq platforms.

• Publisher: Springer Berlin Heidelberg,Springer,Springer Nature B.V
• Subject: Alleles / Biomedical and Life Sciences / Biomedicine / Cancer research / Chromosomes / Exome / Female / Gene Function / Genetic Loci / Genome, Human / Genomes / Genomics / Genotype / Genotyping Techniques - instrumentation / Genotyping Techniques - methods / Human Genetics / Humans / INDEL Mutation / Laboratories / Male / Medical research / Metabolic Diseases / Molecular Medicine / Original Investigation / Pedigree / Polymorphism, Single Nucleotide / Reproducibility of Results / Sensitivity and Specificity / Sequence Analysis, DNA - instrumentation / Sequence Analysis, DNA - methods