A mini-multiplex SNaPshot assay for the triage of degraded human DNA

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dc.contributor.authorBardan, F.
dc.contributor.authorHiggins, D.
dc.contributor.authorAustin, J.
dc.date.issued2018
dc.descriptionAvailable online 06 February 2018
dc.description.abstractShort Tandem Repeat (STR) genotyping is currently the primary DNA-based method for human identification, however it can have limited success when applied to degraded human remains. Massively parallel sequencing (MPS) provides new opportunities to obtain genetic data for hundreds of loci in a single assay with higher success from degraded samples. However, due to the extra requirement for specialised equipment, expertise and resources, routine use of MPS may not be feasible or necessary for many forensic cases. Here we describe the development of a mini-multiplex SNaPshot screening tool (Miniplex) for human samples which allows the qualitative comparison of short mitochondrial and nuclear DNA targets, as well as the interrogation of biogeographic ancestry, lineage, and phenotype single nucleotide polymorphisms (SNPs). This tool is useful to triage samples based on sample quality prior to downstream identification workflows and provides broad biological profile data for intelligence purposes.
dc.description.statementofresponsibilityFelicia Bardan, Denice Higgins, Jeremy J. Austin
dc.identifier.citationForensic Science International: Genetics, 2018; 34:62-70
dc.identifier.doi10.1016/j.fsigen.2018.02.006
dc.identifier.issn1872-4973
dc.identifier.issn1878-0326
dc.identifier.orcidHiggins, D. [0000-0001-7780-243X]
dc.identifier.orcidAustin, J. [0000-0003-4244-2942]
dc.identifier.urihttp://hdl.handle.net/2440/112127
dc.language.isoen
dc.publisherElsevier BV
dc.relation.granthttp://purl.org/au-research/grants/arc/FT100100108
dc.relation.granthttp://purl.org/au-research/grants/arc/DP150101664
dc.relation.granthttp://purl.org/au-research/grants/arc/LE160100154
dc.rights© 2018 Elsevier B.V. All rights reserved.
dc.source.urihttps://doi.org/10.1016/j.fsigen.2018.02.006
dc.subjectDegraded DNA
dc.subjectScreening tool
dc.subjectSNPs
dc.subjectBiogeographic ancestry
dc.subjectSex prediction
dc.subjectLineage markers
dc.titleA mini-multiplex SNaPshot assay for the triage of degraded human DNA
dc.typeJournal article
pubs.publication-statusPublished

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