Unleashing novel STRS via characterization of genome in a bottle reference samples

The higher level of multiplexing possible with current sequencing technologies encourages adoption of additional STR loci to aid in mixture interpretation [1]. However, characterization of these loci and orientation on the human genome is vital for interlaboratory comparability and databasing. Currently, when a laboratory publishes population data from a locus not previously characterized for forensic use, there is no robust way to verify the locus designation, repeat region format, and fidelity of target. To address this, we have evaluated short- and long-read sequence data generated for reference materials included in the Genome in a Bottle Consortium (GIAB) [2] with the goal of reporting STR sequences for loci which may be of interest to the forensic community. Initially, we have analyzed GIAB data using Marshfield sets of primers (published in [3]), targeting over 600 microsatellite loci with STRaitRazor 3.0 [4]. In the future, this approach can be expanded to include other loci of interest. High-confidence STR sequence data will be made publicly available via GenBank record creation within the STRSeq BioProject [5]. As the cell lines represented in GIAB reference materials are available for purchase, this STR dataset represents a robust method for researchers to confirm targeted loci.