Publications

Developmental Validation of the MiSeq FGx Forensic Genomics System for Targeted Next Generation Sequencing in Forensic DNA Casework and Database Laboratories Summary: The developmental validation of the MiSeq FGx Forensic Genomics System was conducted according to the 2012 SWGDAM Validation Guidelines for DNA Analysis Methods. Results demonstrated that the performance is accurate, robust, sensitive, specific, reliable, and reproducible on samples of various quality. View Online


Massively parallel sequencing of forensic STRs and SNPs using the Illumina® ForenSeq™ DNA Signature Prep Kit on the MiSeq FGx™ Forensic Genomics System Summary: A highly detailed investigation of the MiSeq FGx Forensic Genomics System across three fundamental vectors: methodological optimization, sequencing performance, and the ForenSeq kit characteristics.  The results mirror closely the performance reported in the developmental validation leading the authors to conclude, “In general, the ForenSeq DNA Signature Prep Kit is a well-performed, robust, reliable, reproducible and highly informative assay, and it is fully capable of human identification not only for single purified genomic DNA but also for LCN, mixture, inhibited, degraded and case-type samples.” View Online


Population and performance analyses of four major populations with Illumina’s FGx Forensic Genomics System Summary: An extensive study of the MiSeq FGx Forensic Genomics System was performed on 725 samples spanning four major population groups.  The implications of combining the power of both STRs and identity SNPs for random match probability calculations were investigated.  The use of sequence alleles, in addition to length alleles, further improved discrimination power. View Online


Automation of library preparation using Illumina ForenSeq kit for routine sequencing of casework samples Summary: The Laboratoire de Police Scientifique de Lyon worked with Hamilton Bonaduz to automate the sample preparation of the ForenSeq Signature Prep Kit on a Hamilton NGS STARlet HID platform.  The impressive results of their validation as well as the benefits of the automated approach are presented.  Their success demonstrates an efficient pathway for integration of the MiSeq FGx Forensic Genomics System into casework workflows globally. View Online


 A preliminary assessment of the ForenSeq™ FGx System: next generation sequencing of an STR and SNP multiplex Summary: The authors performed a rigorous evaluation of the MiSeq FGx Forensic Genomics System according to the guidelines described by SWGDAM for an internal validation.  Results obtained were checked for concordance and accuracy against orthogonal approaches (i.e. CE, FROG-kb, 23andMe) and the system was found to perform well.  The work presented here is especially useful for operational laboratories planning internal validation experiments. View Online


Increasing the reach of forensic genetics with massively parallel sequencing Summary: There is massive potential for applications of massively parallel sequencing (MPS) in forensic genomics.  This review acknowledges the proven technology and describes near-term opportunities to leverage the technology in targeting today’s problems. Specifically, molecular autopsy, microbial forensics, and the differentiation of monozygotic twins is approached and discussed through the lens of what is possible and practical in today’s environment. View Online


 Performance and concordance of the ForenSeq™ system for autosomal and Y chromosome short tandem repeat sequencing of reference-type specimens Summary: The MiSeq FGx Forensic Genomics System was evaluated by the Federal Bureau of Investigation for its applicability to analyzing reference samples.  In particular, an extensive evaluation of the data analysis was conducted to elucidate the impact of multiplex size and read counts on data recovery and concordance.  This foundational work further inspects the ability of the ForenSeq Universal Analysis Software to effectively flag low-quality or ambiguous results.  The results led the authors to conclude, “for high volume aSTR or Y-STR sequencing, such as in population studies or databasing of known specimens, it may be feasible to use the UAS as an expert system and limit analyst review to only those loci with quality indicators.” View Online

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