Journal
FORENSIC SCIENCE INTERNATIONAL-GENETICS
Volume 41, Issue -, Pages 107-119Publisher
ELSEVIER IRELAND LTD
DOI: 10.1016/j.fsigen.2019.04.003
Keywords
Forensic mixture profiling; Genetic markers; Autosomal STR; Y-STR; Rapidly mutating Y-STR; Indel/DIP; SNP; Microhaplotype; Compound markers; DIP-STR; SNP-STR; DIP-SNP; Capillary electrophoresis; Massively parallel sequencing
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Funding
- Swiss National Science Foundation [2017-P2LAP3_174742]
- National Institute of Justice [2017-DN-BX-0164]
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The deconvolution of DNA mixtures has gathered the attention of forensic DNA scientists for over two decades. To enhance mixture deconvolution capabilities, a new generation of sensitive DNA-typing approaches has been recently proposed. In this review, we describe novel, forensically relevant multi-SNP loci (i.e., microhaplotypes or microhaps), compound markers (i.e., DIP-STRs, SNP-STRs and DIP-SNPs) and lineage markers (i.e., rapidly mutating Y chromosome STRs) that improve the deconvolution of two and more than two-person mixtures typed using conventional STR, binary and non-binary loci. We explore the features and applications of these emerging molecular biomarkers with respect to their ability to forensically detect same-or-opposite sex donors. Finally, we discuss the impact of initial massively parallel sequencing (MPS) investigations of STR, microhaplotype and SNP/indel assays for DNA mixture profiling.
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