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Title

P030 – ID-Lead: a cost-effective SNP panel for human identification and forensic leads

11:13

Wednesday August 19^th

Station 06

Duration: 12 minutes

03. Human identification

Anders Buchard

Forensic SNP panels are increasingly used for human identity (HID) testing and investigative lead inference. However, conventional amplicon-based methods paired with next generation sequencing (NGS) have varied success when applied to samples with highly fragmented DNA. In addition, while low density SNP panels are useful for HID, their application for forensic investigative genetic genealogy (FIGG) is limited, in particular for samples with low endogenous content.

We present ID-Lead, a large-scale, multipurpose SNP panel comprising of ~708,000 nuclear SNPs that can be combined with probes for complete mitochondrial enrichment. This panel integrates SNPs from previously published forensic panels for identity confirmation, extended kinship and FIGG, biogeographic ancestry inference, and phenotype prediction within a single framework. The probe design was optimized with Twist Bioscience, removing SNPs from repetitive regions of the genome. A subpanel designed for environmental DNA (406k SNPs) was also created by retaining loci differing by ≥8 bases from at least one non-primate mammal to reduce off-target hybridization in low-divergence regions. In addition to increasing the proportion of human DNA, this subpanel is expected to improve specificity in scenarios where non-human mammalian DNA may also be present within a sample (i.e. for soil samples).
The performance of the panel was tested with samples of varied endogenous content and quality (blood, buccal swabs, and soil) in addition to sensitivity testing down to 0.015ng with a positive control. DNA extracts from each material were converted into double-indexed, double-stranded libraries before undergoing 8-plex hybridization enrichment. The 8-plex protocol was used as it is the standard for the Twist protocol and reduces cost and processing time. Resulting sequencing data was evaluated for various metrics including SNP recovery, coverage and concordance, cost-efficiency, and reproducibility. With this panel we demonstrate the utility of large SNP panels via multiplex hybridization enrichment for both HID and investigative leads.

Authors

Anders Buchard (Section of Forensic Genetics, Department of Forensic Medicine, Faculty of Health and Medical Sciences, University of Copenhagen, Denmark)
Nadescha Viviane Hänggi (Section of Forensic Genetics, Department of Forensic Medicine, Faculty of Health and Medical Sciences, University of Copenhagen, Denmark)
Alberte Honoré Jepsen (Section of Forensic Genetics, Department of Forensic Medicine, Faculty of Health and Medical Sciences, University of Copenhagen, Denmark)
Nadezda Vilgerte Jochumsen (Section of Forensic Genetics, Department of Forensic Medicine, Faculty of Health and Medical Sciences, University of Copenhagen, Denmark)
Jeppe Dyrberg Andersen (Section of Forensic Genetics, Department of Forensic Medicine, Faculty of Health and Medical Sciences, University of Copenhagen, Denmark)
Marie-Louise Kampmann (Section of Forensic Genetics, Department of Forensic Medicine, Faculty of Health and Medical Sciences, University of Copenhagen, Denmark)
Elena Irene Zavala (Section of Forensic Genetics, Department of Forensic Medicine, Faculty of Health and Medical Sciences, University of Copenhagen, Denmark)

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P030 – ID-Lead: a cost-effective SNP panel for human identification and forensic leads

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