Aug 27 2015

Toward Validation and Implementation of the MiSeq FGx Forensic Genomics System

Submitted by Illumina

Advances in massively parallel sequencing (MPS) and bioinformatics can now deliver more insight from forensic DNA samples than traditional methods have offered.  Targeted MPS genotyping provides the highest resolution (at the nucleotide level) than ever before possible. MPS, also known as next generation sequencing (NGS), routinely provides economical, large volume sequencing to address varied scientific questions in evolutionary biology, molecular anthropology, phylogeny, medical genetics, microbiology, epidemiology, agriculture and, metagenomics and more.

Applications of MPS for forensic genomics are far reaching. Targeted MPS allows us to simultaneously type forensic autosomal, X and Y STR loci and various classes of SNPs in a single reaction.  This permits time saving and sensitive generation of profiles from a single aliquot resulting in much more information from the same sample.

MPS advantages have the potential to improve price, throughput and discriminatory power of forensic DNA typing.   Advantages include 1) improved capabilities on low template, degraded, challenging samples, 2) enhanced capability for deconvoluting mixtures, 3) compatibility with worldwide STR DNA databases, 4) screening of male (Y STRs) and female lineage relatives (mtDNA) for missing person and disaster victim identification cases, and 5) providing information for investigative leads for unknown individuals by inferring biogeographical ancestry and phenotypic characteristics such as eye color and hair color.  Additionally, MPS is useful to uncover answers in molecular autopsy, in identifying the tissue source of biological samples and stains, and in inferring three-dimensional facial shapes.

Illumina’s sequencing by synthesis (SBS) technology on the MiSeq FGx instrument simultaneously analyzes over 200 forensically relevant loci using one simple, unified workflow, from less than 1 ng of sample. With the ForenSeq DNA Signature Prep kit, autosomal, X and Y STRs are coamplified and typed along with Identity, phenotypic and biogeographical ancestry informative SNPs.  The ForenSeq kit and the ForenSeq Universal Analysis Software were designed for routine and challenging casework analyses and for single source reference and database samples. The MiSeq FGx Forensic Genomics System (kit, instrument and software) was subjected to development validation per SWGDAM guidelines.

This one simple sample to answer system replaces at least six different CE-based workflows (autosomal, Y and X STRs, iiSNPs, piSNPs and aiSNPs) and, in many instances, provides orders of magnitude more information than before with from highly degraded, low template and mixed samples.  With the MiSeqFGx System, crime laboratories can simultaneously analyze every locus now in use, plus hundreds more, aiding more cases and providing investigative leads.

Illumina’s Vendor Showcase is being held in conjunction with the 2015 International Symposium of Human Identification in Grapevine Texas.  The workshop will feature three informative seminars about how NGS is transforming Forensic Genomics  using the MiSeq FGx Forensic Genomics System.

Dr. Cydne Holt will share product updates, developmental validation highlights and recent investigative applications.

Mr. John Walsh will describe the intuitive, powerful, Forenseq Universal Analysis Software: a complete, practical forensic bioinformatics solution, including a look at the bioinformatics driving the software.

Dr. Bruce Budowle will cover illuminating validation and applications of the MiSeq FGx Forensic Genomics System from his lab, in the host state of Texas!

Please come and join the Illumina Forensic Genomics Team for an evening of current genomic science, while enjoying light refreshments and drinks.

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