Validation of Illumina’s Isaac variant calling workflow
Liudmila S. Mainzer, Brad A. Chapman, Oliver Hofmann, Gloria Rendon, Zachary D. Stephens, C. Victor Jongeneel
This paper evaluates Illumina's Isaac variant calling workflow, finding it fast with improved accuracy but noting high false positives in exomes and inability to reproduce claimed 99% sensitivity and specificity.
bioRxiv · Nov 26, 2015 · PreprintBioinformatics