Document Details
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Document Type |
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Article In Journal |
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Document Title |
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Evaluation of the Qiagen 140-SNP forensic identification multiplex for massively parallel sequencing Evaluation of the Qiagen 140-SNP forensic identification multiplex for massively parallel sequencing |
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Document Language |
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English |
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Abstract |
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A new forensic 140-SNP genotyping system from Qiagen, designed for massively parallel sequencing
(MPS) analysis, was evaluated using the Ion PGMTM MPS system. Assessments consisted of the
sequencing of: established control DNAs that had been previously genotyped with alternative PCR and
library preparation kits supplied by Thermo Fisher Scientific for the Ion PGMTM system; a simple set of
artificial DNA mixtures; DNA extracted from a degraded femur; and a dilution series to gauge forensic
sensitivity. In addition to the reagents for the DNA target capture PCR and library preparation, Qiagen
offer an alternative sequence analysis software system (Workbench), which was assessed alongside the
Ion PGMTM Genotyper software for forensic MPS analysis. The Qiagen SNP genotyping system produced
full genotyping concordance with previous data obtained with a similar SNP panel on the Ion PGMTM and
in comparison to genotypes listed for 139 of the 140 SNPs in 1000 Genomes. The workbench software was
as reliable as Genotyper in calling genotypes, although scrutiny of sequence data with IGV revealed the
problem of sequence misalignment plagues a small proportion of the 140 SNPs in the Qiagen panel, a
problem already recognized in multiple MPS studies of the same markers in alternative kits. The potential
for genotype miscalls from sequence misalignment in certain SNPs will require manual inspection in
cases where low-level or degraded DNA reduces the sequence coverage to a point where misalignment
influences individual SNP genotype quality |
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ISSN |
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1872-4973 |
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Journal Name |
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Forensic Science International: Genetics |
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Volume |
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28 |
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Issue Number |
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1 |
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Publishing Year |
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1438 AH
2017 AD |
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Article Type |
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Article |
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Added Date |
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Tuesday, May 16, 2017 |
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Researchers
| M de la Puente | de la Puente, M | Investigator | Doctorate | |
| C Phillips | Phillips, C | Researcher | Doctorate | |
| C Santos | Santos, C | Researcher | Doctorate | |
| M Fondevila | Fondevila, M | Researcher | Doctorate | |
| Á Carracedo | Carracedo, Á | Researcher | Doctorate | |
| M V Lareu | Lareu, M V | Researcher | | |
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