Input Data

To obtain reliable variant results, the accuracy of sequence alignment, consensus calling and variant detection is of paramount importance. Throughout its history, DNASTAR has emphasized the development of exceptionally accurate software, ensuring that users will obtain the highest quality results. To assess the accuracy of DNASTAR’s next-generation sequence aligner and variant caller for Illumina and Ion Torrent data, we compared whole exome results from DNASTAR’s SeqMan NGen 12.2 with those from CLC Bio’s Genomics Workbench 8.0, another commercial pipeline with a variant detection workflow. Our results for Illumina exome data demonstrate that SeqMan NGen 12.2 has higher sensitivity, finds fewer false positives and false negatives, and has a lower false discovery rate compared to CLC Bio’s Genomics Workbench 8.0. For Ion Torrent exome data, SeqMan NGen has better specificity, reports fewer false positives, and has a lower false discovery rate. For both types of data, SeqMan NGen performs variant analyses from 1.5-4.0 times faster than Genomics Workbench