Development of a Self-sustaining, Open Access Forensic STR Sequence Diversity Database

As submitted by the proposer: The practice of DNA forensics is on a trajectory to adopt a revolutionary new technology called next-generation sequencing (NGS). With the implementation of NGS, laboratories will be able to analyze biological evidence at an unprecedented genetic resolution. NGS will assist investigations, augment criminal casework, assist in the identification of missing persons, resolve paternity disputes and help close cold and unsolved cases. However, some critical elements must be in place to allow effective, accurate, and reliable evidence analysis by NGS. While other on- going efforts are focusing on NGS technology development and implementation, this applied research study proposes to characterize STR sequence diversity and fill the critical requirement of an NGS population diversity database. An interdisciplinary team comprised of forensic DNA scientists, NGS experts, and computer scientists will be formed to achieve the three goals of this study. First, a robust and quality reviewed STR sequence population dataset of 1000 profiles will be generated using commercially available NGS kits. The dataset will be comprised of traditional forensic genetic markers (autosomal-, X– and Y- short tandem repeats) to be backward compatible with existing criminal databases, plus yield the powerful sequence data from NGS analysis. Second, a cloud-based, open-access tool for visualizing population data, and performing genotype analysis at the locus sequence level will be developed. The cloud developed environment will be self-sustaining and in a public domain to provide longevity to the resource. Third, the database will be designed as a collective resource for forensic laboratories producing NGS data. Proficient laboratories will be identified as contributors and the dynamic web application will allow automated NGS data submission with computer-supported quality and content review. At the completion of the program, the final product will be available to the entire criminal justice community, including laboratories without sufficient resources to produce population datasets from NGS. The database will meet a critical need in the community for adopting NGS and allow researchers and practitioners to apply statistical rigor to data generated using NGS. This project contains a research and/or development component, as defined in applicable law. ca/ncf