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A SNP panel for identity and kinship testing using massive parallel sequencing
National Board Forens Med, Department Forens Genet and Forens Toxicol, Artillerigatan 12, SE-58758 Linkoping, Sweden.
QIAGEN Science Inc, MD 21703 USA.
Linköping University, Department of Clinical and Experimental Medicine, Division of Microbiology and Molecular Medicine. Linköping University, Faculty of Medicine and Health Sciences. National Board Forens Med, Department Forens Genet and Forens Toxicol, Artillerigatan 12, SE-58758 Linkoping, Sweden.
2016 (English)In: International journal of legal medicine (Print), ISSN 0937-9827, E-ISSN 1437-1596, Vol. 130, no 4, 905-914 p.Article in journal (Refereed) PublishedText
Abstract [en]

Within forensic genetics, there is still a need for supplementary DNA marker typing in order to increase the power to solve cases for both identity testing and complex kinship issues. One major disadvantage with current capillary electrophoresis (CE) methods is the limitation in DNA marker multiplex capability. By utilizing massive parallel sequencing (MPS) technology, this capability can, however, be increased. We have designed a customized GeneRead DNASeq SNP panel (Qiagen) of 140 previously published autosomal forensically relevant identity SNPs for analysis using MPS. One single amplification step was followed by library preparation using the GeneRead Library Prep workflow (Qiagen). The sequencing was performed on a MiSeq System (Illumina), and the bioinformatic analyses were done using the software Biomedical Genomics Workbench (CLC Bio, Qiagen). Forty-nine individuals from a Swedish population were genotyped in order to establish genotype frequencies and to evaluate the performance of the assay. The analyses showed to have a balanced coverage among the included loci, and the heterozygous balance showed to have less than 0.5 % outliers. Analyses of dilution series of the 2800M Control DNA gave reproducible results down to 0.2 ng DNA input. In addition, typing of FTA samples and bone samples was performed with promising results. Further studies and optimizations are, however, required for a more detailed evaluation of the performance of degraded and PCR-inhibited forensic samples. In summary, the assay offers a straightforward sample-to-genotype workflow and could be useful to gain information in forensic casework, for both identity testing and in order to solve complex kinship issues.

Place, publisher, year, edition, pages
SPRINGER , 2016. Vol. 130, no 4, 905-914 p.
Keyword [en]
Next generation sequencing; Single-nucleotide polymorphism; Forensic genetics; Human identification; Kinship
National Category
Forensic Science
Identifiers
URN: urn:nbn:se:liu:diva-130267DOI: 10.1007/s00414-016-1341-4ISI: 000378817900003PubMedID: 26932869OAI: oai:DiVA.org:liu-130267DiVA: diva2:950632
Available from: 2016-08-01 Created: 2016-07-28 Last updated: 2016-08-01

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Tillmar, Andreas
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Division of Microbiology and Molecular MedicineFaculty of Medicine and Health Sciences
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