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

Hum Genet. 2013 Oct;132(10):1153-63. doi: 10.1007/s00439-013-1321-4. Epub 2013 Jun 12.


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.

Publication types

  • Comparative Study
  • Evaluation Study
  • Research Support, N.I.H., Extramural
  • Research Support, N.I.H., Intramural

MeSH terms

  • Alleles
  • Exome*
  • Female
  • Genetic Loci
  • Genome, Human*
  • Genotype
  • Genotyping Techniques / instrumentation
  • Genotyping Techniques / methods
  • Humans
  • INDEL Mutation*
  • Male
  • Pedigree
  • Polymorphism, Single Nucleotide
  • Reproducibility of Results
  • Sensitivity and Specificity
  • Sequence Analysis, DNA / instrumentation*
  • Sequence Analysis, DNA / methods