Identification and characterization of novel DIP-STRs from whole-genome sequencing data.

Details

Serval ID
serval:BIB_BB4C7E64E112
Type
Article: article from journal or magazin.
Collection
Publications
Institution
Title
Identification and characterization of novel DIP-STRs from whole-genome sequencing data.
Journal
Forensic science international. Genetics
Author(s)
Damour G., Mauffrey F., Hall D.
ISSN
1878-0326 (Electronic)
ISSN-L
1872-4973
Publication state
Published
Issued date
05/2023
Peer-reviewed
Oui
Volume
64
Pages
102849
Language
english
Notes
Publication types: Journal Article ; Research Support, Non-U.S. Gov't
Publication Status: ppublish
Abstract
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.
Keywords
Humans, Prospective Studies, DNA Fingerprinting, Haplotypes, DNA/genetics, Genotype, Microsatellite Repeats, Allele-specific PCR, Alternative forensic tool, Complex DNA mixtures, Compound genetic marker
Pubmed
Web of science
Create date
03/03/2023 12:26
Last modification date
16/09/2023 5:55
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