- •Whole genome sequencing data indicate that hundreds of DIP-STRs exist.
- •Additional 23 candidates are validated here to produce a final set of 30 forensic DIP-STRs.
- •Markers are short (230 bp average), sensitive (down to 0.06 ng of DNA) and polymorphic (0.7 heterozygosity).
- •They can target a minor DNA amplification contributing only 0.1 % to the mixed trace.
In an attempt to enhance forensic DNA mixture deconvolution several alternative DNA typing approaches have been developed. Among these, DIP-STR compound markers can resolve extremely unbalanced two-source DNA mixtures of same-or-opposite sex donors, up to a 1:1000 minor:major DNA ratio. A forensic set of 10 markers was validated for casework and a larger set of 23 DIP-STRs has proven suitable to biogeographic ancestry inference and for prenatal paternity testing. Yet, to promote the widespread use of this original approach, more markers and multiplex panels need to be developed.
To this end, here we describe an extended set of forensic DIP-STRs identified using currently available whole-genome sequencing datasets. Complete lists of Indels and STRs were obtained from reported frequencies of genetic variants of 76,156 genomes. About 3000 identified DIP-STRs candidates were shorter than 200 bp and 500 showed high haplotype variability estimated using the genotypes of individuals homozygous for the DIP or the STR. Here, we present 23 additional DIP-STRs validated for sensitivity, specificity and Swiss population variability. Finally, a set of 30 markers comprising seven previously validated ones is proposed for the prospective development of a forensic DIP-STR multiplex panel.
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Published online: February 17, 2023
Accepted: February 16, 2023
Received in revised form: February 13, 2023
Received: November 29, 2022
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