STRspy-ing hidden variation in forensic DNA profiles with the MinION

Abstract

The high variability characteristic of short tandem repeat (STR) markers is harnessed for human identification in forensic genetic analyses. Despite the power and reliability of current typing techniques, sequence-level information, both within and around STRs, are masked in the length-based profiles generated. Here, we evaluate the forensic applicability of nanopore sequencing using reads produced on the MinION device and analyzed with STRspy, a novel method capable of producing length- and sequence-based STR allele designations. STRspy generated accurate genotypes across all autosomal STR loci amplified at 30 PCR cycles with 100% concordance and even achieves high concordance at 15 PCR cycles.