When I look back on 2018, I see a year dominated in the journals by massively parallel sequencing (MPS) in many facets.  While it would be exhausting to detail every relevant paper from the year, I wanted to share some of the themes and a handful of the papers I found interesting when taking a moment to look back.

 

In-Depth Evaluations of the MiSeq FGx® Forensic Genomics Solution

It was clear from the volume of publications in the forensic genomics journals about MPS that the technology has reached widespread acceptance, with the MiSeq FGx Forensic Genomics Solution represented in the vast majority of the work.  The following collection of articles related to evaluating the performance of the Solution, all arrived at similar conclusions:

Real World Implications Investigated

A number of laboratories have moved beyond the evaluation phase and begun looking at the Verogen Solution under different optimization parameters and application to real-world situations.

Forensic Population Sequencing

The introduction of MPS to forensic genomics provides numerous benefits with considerable excitement around one in particular: significant gains in discrimination power.  Isoalleles, or alleles of the same length that differ by the sequence makeup, provide an additional dimension to the data and require these population studies in order to describe the statistical relevance.

In all of these studies, the authors concluded that MPS is concordant to CE results with tangible gains in discrimination power.

 

Massively parallel sequencing witnessed a watershed year in the journals for 2018 and the topics above only scratch the surface.  There were other important works published on everything from mtDNA analysis to early efforts with probabilistic genotyping, genetic genealogy to phenotype estimation.  If 2018 is any indication, 2019 will be an even more exciting year in the advancement of this technology.

Do you have a project or idea for a study that could advance the field of forensic genomics? We want to hear about it! Contact us to discuss how we might collaborate effectively and make good things happen in 2019! 

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[i] Hussing, Christian, et al. “Sequencing of 231 Forensic Genetic Markers Using the MiSeq FGx™ Forensic Genomics System – an Evaluation of the Assay and Software.” Forensic Sciences Research, vol. 3, no. 2, Mar. 2018, pp. 111–123., doi:10.1080/20961790.2018.1446672.

[ii] Köcher, Steffi, et al. “Inter-Laboratory Validation Study of the ForenSeq™ DNA Signature Prep Kit.” Forensic Science International: Genetics, vol. 36, 2018, pp. 77–85., doi:10.1016/j.fsigen.2018.05.007.

[iii] Moreno, Lilliana I., et al. “A Closer Look at Verogen’s Forenseq™ DNA Signature Prep Kit Autosomal and Y-STR Data for Streamlined Analysis of Routine Reference Samples.” Electrophoresis, vol. 39, no. 21, Dec. 2018, pp. 2685–2693., doi:10.1002/elps.201800087.

[iv] Zhang, Qingzhen, et al. “Evaluation of the Performance of Illumina’s ForenSeq™ System on Serially Degraded Samples.” Electrophoresis, vol. 39, no. 21, Oct. 2018, pp. 2674–2684., doi:10.1002/elps.201800101.

[v] Mehta, Bhavik, et al. “Comparison between Magnetic Bead and QPCR Library Normalisation Methods for Forensic MPS Genotyping.” International Journal of Legal Medicine, vol. 132, no. 1, 2017, pp. 125–132., doi:10.1007/s00414-017-1591-9.

[vi] https://verogen.com/wp-content/uploads/2018/08/ForenSeq-DNA-Prep-Guide-VD2018005-A.pdf

[vii] Elwick, Kyleen, et al. “Comparative Tolerance of Two Massively Parallel Sequencing Systems to Common PCR Inhibitors.” International Journal of Legal Medicine, vol. 132, no. 4, 2017, pp. 983–995., doi:10.1007/s00414-017-1693-4.

[viii] Kulstein, Galina, et al. “As Solid as a Rock—Comparison of CE- and MPS-Based Analyses of the Petrosal Bone as a Source of DNA for Forensic Identification of Challenging Cranial Bones.” International Journal of Legal Medicine, vol. 132, no. 1, 2017, pp. 13–24., doi:10.1007/s00414-017-1653-z.

[ix] Li, Ran, et al. “Improved Pairwise Kinship Analysis Using Massively Parallel Sequencing.” Forensic Science International: Genetics, vol. 38, 2019, pp. 77–85., doi:10.1016/j.fsigen.2018.10.006.

[x] Devesse, Laurence, et al. “Concordance of the ForenSeq™ System and Characterisation of Sequence-Specific Autosomal STR Alleles across Two Major Population Groups.” Forensic Science International: Genetics, vol. 34, 2018, pp. 57–61., doi:10.1016/j.fsigen.2017.10.012.

[xi] Hussing, C., et al. “The Danish STR Sequence Database: Duplicate Typing of 363 Danes with the ForenSeq™ DNA Signature Prep Kit.” International Journal of Legal Medicine, 2018, doi:10.1007/s00414-018-1854-0.

[xii] Churchill, Jennifer D, et. al. “Population and performance analyses of four major populations with Illumina’s FGx Forensic Genomics System.” Forensic Science International: Genetics, vol. 30, 2017, pp. 81–92., doi:10.1016/j.fsigen.2017.06.004.

[xiii] King, Jonathan L., et al. “Increasing the Discrimination Power of Ancestry- and Identity-Informative SNP Loci within the ForenSeq™ DNA Signature Prep Kit.” Forensic Science International: Genetics, vol. 36, 2018, pp. 60–76., doi:10.1016/j.fsigen.2018.06.005.

[xiv] Gettings, Katherine Butler, et al. “Sequence-Based U.S. Population Data for 27 Autosomal STR Loci.” Forensic Science International: Genetics, vol. 37, 2018, pp. 106–115., doi:10.1016/j.fsigen.2018.07.013.

[xv] Kim, Se-Yong, et al. “Massive Parallel Sequencing of Short Tandem Repeats in the Korean Population.” Electrophoresis, vol. 39, no. 21, 2018, pp. 2702–2707., doi:10.1002/elps.201800090.

[xvi] Phillips, Christopher, et al. “Global Patterns of STR Sequence Variation: Sequencing the CEPH Human Genome Diversity Panel for 58 Forensic STRs Using the Illumina ForenSeq DNA Signature Prep Kit.” Electrophoresis, vol. 39, no. 21, Mar. 2018, pp. 2708–2724., doi:10.1002/elps.201800117.