This workshop consists of a basic (morning session) and an advanced part (afternoon session). The advanced portion of the workshop will include hands-on exercises, for which it is recommended that participants bring their own laptops on which the software is installed. Further instructions will be provided prior to the workshop. 

Bioinformatics MPS

This workshop will focus on the availability of sequencing technologies and commercial kits, the laboratory procedures utilized to generate sequence data, first- and third-party software workflows for data analysis, best practices of reporting sequence data in forensic genomics, and basic analysis of Massively Parallel Sequencing (MPS) data with the STRait Razor Suite and FDSTools software will be demonstrated. Attendees will be instructed on the usage of primary (STRait Razor v3 and TSSV) and secondary analysis tools (STRait Razor Online and FDSTools) to analyze data from commercially available kits. Guidance will be given for modifying the default settings, developing configuration files for both primary and secondary analysis of laboratory-developed tests (e.g., in-house PCR multiplex assays), and considerations for further processing the output. The strengths of and rationale behind the different methods will be explored by examining the results. This way, attendees will gain a deeper insight into the powers and challenges (and solutions!) that arise from the application of MPS to forensic samples. 

Finally, recommendations will be provided regarding MPS Short Tandem Repeat (STR) allele nomenclature and some useful online resources will be introduced, including STRSeq, STRidER, and the Forensic Sequence STRucture Guide. 

Attendees should have general understanding of massively parallel sequencing of DNA markers including, but not limited to, concepts such as DNA libraries, STR repeats, and single-nucleotide polymorphisms (SNPs). In the afternoon session, attendees will be given in-depth, guided instruction on the development of analytical methods including, but not limited to, the use of command line interface for adapting these softwares to laboratory conditions and interpretation of both STR and SNP PCR-MPS data.