Paternity Testing Using Massively Parallel Sequencing and the PowerSeq (TM) AUTO/Y System for Short Tandem Repeat Sequencing

• NCJ Number: 254040
• Award: Development of a Self-sustaining, Open Access Forensic STR Sequence Diversity Database

Annotation

This study applied a massively parallel sequencing (MPS) system (PowerSeq AUTO/Y) for STR sequencing in the analysis of first- degree STR sequence allele inheritance from families in Southern Brazil.

Abstract

Massively parallel sequencing (MPS) is gaining attention as a new technology for routine forensic casework, including paternity testing. Recently released MPS multiplex panels provide many more loci compared to CE methods, plus provide sequence-based alleles that together improve the statistical power of the genetic testing. The current study analyzed 29 trios (mother,child,father). The paternity index values generally increased when data from sequence-based analysis were used compared to length-based data. Further, allele inconsistencies (e.g., single repeat mutation events) between child and parents could be resolved with MPS by assessing the core repeat and flanking region sequences. Lastly, the sequence information enabled the identification of isoalleles (alleles of the same size, but different sequence) to determine specific paternal and maternal inheritances. The results from this study showed the advantages of implementing sequence-based analysis, MPS, in paternity testing, as it improved statistical calculations and provided a greater resolution for the trios/families tested. (publisher abstract modified)