Applying Unique Molecular Indices with an Extensive All-in-One Forensic SNP Panel for Improved Genotype Accuracy and Sensitivity

Staadig, AdamLinköpings universitet,Linköping University,Swedish National Board of Forensic Medicine, Linköping,Avdelningen för molekylär medicin och virologi,Medicinska fakulteten,Natl Board Forens Med, Dept Forens Genet & Forens Toxicol, S-58758 Linkoping, Sweden (författare)

One of the major challenges in forensic genetics is being able to detect very small amounts of DNA. Massively parallel sequencing (MPS) enables sensitive detection; however, genotype errors may exist and could interfere with the interpretation. Common errors in MPS-based analysis are often induced during PCR or sequencing. Unique molecular indices (UMIs) are short random nucleotide sequences ligated to each template molecule prior to amplification. Applying UMIs can improve the limit of detection by enabling accurate counting of initial template molecules and removal of erroneous data. In this study, we applied the FORCE panel, which includes ~5500 SNPs, with a QIAseq Targeted DNA Custom Panel (Qiagen), including UMIs. Our main objective was to investigate whether UMIs can enhance the sensitivity and accuracy of forensic genotyping and to evaluate the overall assay performance. We analyzed the data both with and without the UMI information, and the results showed that both genotype accuracy and sensitivity were improved when applying UMIs. The results showed very high genotype accuracies (>99%) for both reference DNA and challenging samples, down to 125 pg. To conclude, we show successful assay performance for several forensic applications and improvements in forensic genotyping when applying UMIs.

Hedman, JohannesLund University,Lunds universitet,Teknisk mikrobiologi,Centrum för tillämpade biovetenskaper,Kemiska institutionen,Institutioner vid LTH,Lunds Tekniska Högskola,Applied Microbiology,Center for Applied Life Sciences,Department of Chemistry,Departments at LTH,Faculty of Engineering, LTH,Swedish National Forensic Center,Swedish Police Author, Natl Forens Ctr, S-58194 Linkoping, Sweden; Lund Univ, Sweden(Swepub:lu)tmb-jeh (författare)
Tillmar, AndreasLinköpings universitet,Linköping University,Swedish National Board of Forensic Medicine, Linköping,Avdelningen för molekylär medicin och virologi,Medicinska fakulteten,Natl Board Forens Med, Dept Forens Genet & Forens Toxicol, S-58758 Linkoping, Sweden(Swepub:liu)andka62 (författare)
Linköping UniversitySwedish National Board of Forensic Medicine, Linköping (creator_code:org_t)

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