A custom hybridisation enrichment forensic intelligence panel to infer biogeographic ancestry, hair and eye colour, and Y chromosome lineage

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dc.contributor.authorBardan, F.
dc.contributor.authorHiggins, D.
dc.contributor.authorAustin, J.J.
dc.date.issued2022
dc.description.abstractMassively parallel sequencing can provide genetic data for hundreds to thousands of loci in a single assay for various types of forensic testing. However, available commercial kits require an initial PCR amplification of short-to-medium sized targets which limits their application for highly degraded DNA. Development and optimisation of large PCR multiplexes also prevents creation of custom panels that target different suites of markers for identity, biogeographic ancestry, phenotype, and lineage markers (Y-chromosome and mtDNA). Hybridisation enrichment, an alternative approach for target enrichment prior to sequencing, uses biotinylated probes to bind to target DNA and has proven successful on degraded and ancient DNA. We developed a customisable hybridisation capture method, that uses individually mixed baits to allow tailored and targeted enrichment to specific forensic questions of interest. To allow collection of forensic intelligence data, we assembled and tested a custom panel of hybridisation baits to infer biogeographic ancestry, hair and eye colour, and paternal lineage (and sex) on modern male and female samples with a range of self-declared ancestries and hair/eye colour combinations. The panel correctly estimated biogeographic ancestry in 9/12 samples (75%) but detected European admixture in three individuals from regions with admixed demographic history. Hair and eye colour were predicted correctly in 83% and 92% of samples respectively, where intermediate eye colour and blond hair were problematic to predict. Analysis of Y-chromosome SNPs correctly assigned sex and paternal haplogroups, the latter complementing and supporting biogeographic ancestry predictions. Overall, we demonstrate the utility of this hybridisation enrichment approach to forensic intelligence testing using a combined suite of biogeographic ancestry, phenotype, and Y-chromosome SNPs for comprehensive biological profiling.
dc.description.statementofresponsibilityFelicia Bardan, Denice Higgins, Jeremy J. Austin
dc.identifier.citationForensic Science International: Genetics, 2022; 63:102822-1-102822-13
dc.identifier.doi10.1016/j.fsigen.2022.102822
dc.identifier.issn1872-4973
dc.identifier.issn1878-0326
dc.identifier.orcidHiggins, D. [0000-0001-7780-243X]
dc.identifier.orcidAustin, J.J. [0000-0003-4244-2942]
dc.identifier.urihttps://hdl.handle.net/2440/137855
dc.language.isoen
dc.publisherElsevier
dc.relation.granthttp://purl.org/au-research/grants/arc/FT10010008
dc.relation.granthttp://purl.org/au-research/grants/arc/DP150101664
dc.relation.granthttp://purl.org/au-research/grants/arc/LE160100154
dc.rights© 2022 Published by Elsevier B.V.
dc.source.urihttps://doi.org/10.1016/j.fsigen.2022.102822
dc.subjectBiogeographic ancestry
dc.subjectForensic intelligence
dc.subjectHybridisation enrichment
dc.subjectPhenotype
dc.subjectSNPs
dc.subject.meshChromosomes, Human, Y
dc.subject.meshHair
dc.subject.meshHumans
dc.subject.meshDNA, Mitochondrial
dc.subject.meshDNA Fingerprinting
dc.subject.meshEye Color
dc.subject.meshPolymorphism, Single Nucleotide
dc.subject.meshFemale
dc.subject.meshMale
dc.subject.meshForensic Genetics
dc.subject.meshHigh-Throughput Nucleotide Sequencing
dc.titleA custom hybridisation enrichment forensic intelligence panel to infer biogeographic ancestry, hair and eye colour, and Y chromosome lineage
dc.typeJournal article
pubs.publication-statusPublished

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