Sequencing

11th Annual Sequencing, Finishing, and Analysis in the Future Meeting
MASSIVELY PARALLEL SEQUENCING
TECHNOLOGIES FOR EXPANDED DNA
IDENTIFICATION CAPABILITIES AT THE FEDERAL
BUREAU OF INVESTIGATION LABORATORY
Thursday, 2nd June 14:40 La Fonda Ballroom Talk (OS‐6.05)
Jodi Irwin 1 , Lilly Moreno 1 , Michael Brandhagen 2 , Michelle Galusha 1 ,
Rebecca Just 2 , Anthony Onorato 2 , Thomas Callaghan 2
1 Federal Bureau of Investigation, 2 FBI Laboratory
Though Massively Parallel Sequencing (MPS) has transformed numerous genetic disciplines over the
past decade, it is only within the past few years that evaluations of MPS for forensic application
have been undertaken in earnest. Given the potential of MPS to not only increase the quantity and
discriminatory power of genetic data but also improve the overall throughput of samples through
the laboratory, the Federal Bureau of Investigation is evaluating MPS assays for future casework
application. Long‐term laboratory efforts are directed towards employing MPS as a common platform
for testing of all markers of forensic interest. However, near‐term efforts are directed specifically towards
evaluating the technology for its utility in expanding existing institutional capabilities. Three
areas of current interest are 1) mitochondrial DNA typing and the development of entire
mitochondrial genome (mtGenome) data in particular and 2) highly challenging samples and the
benefits of MPS for improved information recovery, and 3) no‐subject crime scene samples and the
value of ancestry and phenotype markers for developing investigative leads. Given the significant
benefits that complete mtGenome data bring to the discriminatory power of mtDNA evidence, we are
evaluating methods that efficiently yield robust mtGenome data from high quality specimens, as well
as approaches that address the significant challenge of recovering entire mtGenome data from limited
evidentiary material. MPS presents a relatively minor shift from currently employed methods and
workflows for mtDNA typing in forensics, and thus mtDNA applications are the primary focus of
our near‐term MPS validation and implementation efforts. In line with these efforts to recover more,
and more discriminatory, mtDNA information from the most limited evidentiary material, we are
also assessing the general benefits of MPS typing for expanding the lower range of sample quality
from which probative data can be recovered. The sensitivity of the MPS process to low quantities of
DNA, the benefits of numerous marker systems in a single assay, the utility of STR sequence
information when only a small number of markers are recovered are some of the topics being
examined and characterized for this application. Finally, we are evaluating commercially available
assays and software tools for predicting ancestry and phenotype to better understand the true
practical utility of these tools in developing investigative leads. With a better practical understanding
of these and other benefits of MPS, new approaches to highly challenging samples can be devised, the
lower range of sample type and quality from which probative data may be recovered can likely be
broadened and the overall number of cases that can benefit from DNA typing can be expanded. Here,
we present an overview of these efforts.
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