IP: Dr. Antonio Alonso Alonso

Resumen del proyecto: Short Tandem Repeats (STRs) are highly polymorphic DNA markers that form the current gold standard in forensic genetics. Most of the relevant information lies in inter-­‐individual DNA fragment size differences that have been captured with electrophoretic systems for the past 20 years. Massively Parallel (Next Generation) Sequencing (MPS) is adding a new dimension to STR typing, providing distinct advantages over the conventional methodology in terms of i) improved resolution of allelic variation via sequence data for STR profiling ii) additional information in single-­‐source and mixed samples, iii) number of loci that can be analyzed simultaneously per amplification, and iv) successful analysis of challenging and highly degraded DNA. Commercial companies currently are developing assays for MPS that need to be evaluated with respect to performance, reliability and robustness. Additionally, the new result format, i.e. the full nucleotide sequence string, poses a challenge to reporting MPS results. Allele nomenclature is a critical issue in forensic genetics, as backwards and parallel compatibility to STR data generated with electrophoretic systems is essential for combating crime. The EU funded project DNASEQEX (DNA-­‐STR Massive Sequencing & International Information Exchange) is addressing these issues in a collaborative manner. The consortium consists of the following partners: The Biology Service of the National Institute of Toxicology and Forensic Science (Madrid, Spain), the Department of Forensic Genetics of the Institute of Legal Medicine and Forensics Science (Berlin, Germany), the Institute of Legal Medicine, Medical University of Innsbruck (Austria) and the Institute of Applied Genetics at the University of North Texas Health Science Center (Fort Worth, Texas, USA). The partners aim to evaluate MPS-­‐based products in their respective developmental stages using the two established platforms MiSeq (Illumina) and S5™ (Thermo Fisher Scientific). The consortium plans to provide feedback to the companies to help improve and establish MPS technologies for forensic purposes. Another deliverable aims at developing open-­‐source MPS interpretation software that is independent of an analytical platform and translates MPS results into nomenclature that is compatible with established STR data and National Intelligence DNA Databases that link perpetrators to crime scenes. DNASEQEX is inviting international research partners and forensic stakeholders to actively participate in this endeavor and to contribute to the tasks in a collaborative manner.

Entidad financiadora: European Commission. Directorate General Migration and Home Affairs