Concordance study on Y-STRs typing between SeqStudio™ genetic analyzer for HID and MiSeq™ FGx forensic genomics system.
DNA typing
Forensic validation and concordance studies
MiSeq™ FGx Forensic Genomics System
SeqStudio™ Genetic Analyzer for HID
Y-chromosome short Tandem repeats (Y-STRs)
Journal
Molecular biology reports
ISSN: 1573-4978
Titre abrégé: Mol Biol Rep
Pays: Netherlands
ID NLM: 0403234
Informations de publication
Date de publication:
Dec 2023
Dec 2023
Historique:
received:
25
07
2023
accepted:
08
09
2023
medline:
27
11
2023
pubmed:
9
10
2023
entrez:
9
10
2023
Statut:
ppublish
Résumé
Massively Parallel Sequencing (MPS) allowed an increased number of information to be retrieved from short tandem repeat (STR) analysis, expanding them not only to the size, as already performed in Capillary Electrophoresis (CE), but also to the sequence. MPS requires constant development and validation of the analytical parameters to ensure that the genotyping results of STRs correspond to those obtained by CE. Given the increased frequency of usage of Y-STRs as supplementary markers to the autosomal STRs analysis, it is urgent to validate the concordance of the typing results between CE and MPS analyses. DNA extracted from 125 saliva samples of unrelated males was genotyped using Yfiler™ Plus PCR Amplification Kit and ForenSeq™ DNA Signature Prep Kit, which were analyzed by SeqStudio™ Genetic Analyzer for HID and MiSeq™ FGx Forensic Genomics System, respectively. For each shared Y-STR, allele designation, number of length- and sequence-based alleles per locus, stutter percentage, and the intra-locus balance of multicopy Y-STRs were screened. Although the number of forensic genetics laboratories that are applying the MPS technique in routine analysis is small and does not allow a global assessment of MPS limitations, this comparative study highlights the ability of MPS to produce reliable profiles despite the generation of large amounts of raw data.
Sections du résumé
BACKGROUND
BACKGROUND
Massively Parallel Sequencing (MPS) allowed an increased number of information to be retrieved from short tandem repeat (STR) analysis, expanding them not only to the size, as already performed in Capillary Electrophoresis (CE), but also to the sequence. MPS requires constant development and validation of the analytical parameters to ensure that the genotyping results of STRs correspond to those obtained by CE. Given the increased frequency of usage of Y-STRs as supplementary markers to the autosomal STRs analysis, it is urgent to validate the concordance of the typing results between CE and MPS analyses.
METHODS AND RESULTS
RESULTS
DNA extracted from 125 saliva samples of unrelated males was genotyped using Yfiler™ Plus PCR Amplification Kit and ForenSeq™ DNA Signature Prep Kit, which were analyzed by SeqStudio™ Genetic Analyzer for HID and MiSeq™ FGx Forensic Genomics System, respectively. For each shared Y-STR, allele designation, number of length- and sequence-based alleles per locus, stutter percentage, and the intra-locus balance of multicopy Y-STRs were screened.
CONCLUSIONS
CONCLUSIONS
Although the number of forensic genetics laboratories that are applying the MPS technique in routine analysis is small and does not allow a global assessment of MPS limitations, this comparative study highlights the ability of MPS to produce reliable profiles despite the generation of large amounts of raw data.
Identifiants
pubmed: 37812349
doi: 10.1007/s11033-023-08808-4
pii: 10.1007/s11033-023-08808-4
pmc: PMC10676315
doi:
Substances chimiques
DNA
9007-49-2
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
9779-9789Commentaires et corrections
Type : ErratumIn
Informations de copyright
© 2023. The Author(s).
Références
Int J Legal Med. 2023 Jul;137(4):971-980
pubmed: 37195354
Forensic Sci Int Genet. 2019 Sep;42:181-189
pubmed: 31374457
Forensic Sci Int Genet. 2018 Sep;36:77-85
pubmed: 29945120
Electrophoresis. 2018 Nov;39(21):2743-2751
pubmed: 30091798
Forensic Sci Res. 2021 Apr 16;7(3):484-489
pubmed: 36353309
J Korean Med Sci. 2022 Feb 14;37(6):e40
pubmed: 35166077
Forensic Sci Int Genet. 2019 Jan;38:175-180
pubmed: 30419516
Forensic Sci Int Genet. 2015 Nov;19:148-155
pubmed: 26226223
Mol Biotechnol. 2003 May;24(1):41-68
pubmed: 12721495
Forensic Sci Int Genet. 2016 Mar;21:15-21
pubmed: 26701720
Forensic Sci Int Genet. 2017 May;28:1-9
pubmed: 28126691
Transfusion. 2016 Feb;56(2):533-8
pubmed: 26450147
Hum Mutat. 2014 Aug;35(8):1021-32
pubmed: 24917567
Int J Legal Med. 2021 Nov;135(6):2263-2274
pubmed: 34550443
Forensic Sci Int Genet. 2015 Jul;17:110-121
pubmed: 25955683
Forensic Sci Int Genet. 2017 May;28:146-154
pubmed: 28273507
Hum Mutat. 2015 Jan;36(1):151-9
pubmed: 25338970
Forensic Sci Int Genet. 2022 Mar;57:102655
pubmed: 35007854
Forensic Sci Int Genet. 2016 Nov;25:198-209
pubmed: 27685342
Forensic Sci Int Genet. 2023 Jul;65:102879
pubmed: 37150076
Int J Legal Med. 2020 Jan;134(1):185-198
pubmed: 31745634
Forensic Sci Int Genet. 2018 May;34:57-61
pubmed: 29413636
Forensic Sci Int Genet. 2016 Nov;25:132-141
pubmed: 27591816
Forensic Sci Int Genet. 2014 Nov;13:68-78
pubmed: 25082138
Electrophoresis. 2018 Nov;39(21):2655-2668
pubmed: 29750373
Forensic Sci Int Genet. 2016 Nov;25:214-226
pubmed: 27697609
Forensic Sci Int Genet. 2018 May;34:162-169
pubmed: 29486434
Forensic Sci Int Genet. 2023 Jul;65:102872
pubmed: 37068444
Forensic Sci Int Genet. 2016 May;22:54-63
pubmed: 26844919
Forensic Sci Res. 2023 May 31;8(2):152-162
pubmed: 37621447
Mol Genet Genomic Med. 2021 Apr;9(4):e1626
pubmed: 33630413
Forensic Sci Int Genet. 2015 Sep;18:118-30
pubmed: 26197946
Forensic Sci Int Genet. 2015 Sep;18:78-89
pubmed: 25704953
Electrophoresis. 2018 Nov;39(21):2685-2693
pubmed: 30025170
Forensic Sci Int Genet. 2018 Jul;35:97-106
pubmed: 29679929
Int J Legal Med. 2022 Mar;136(2):447-464
pubmed: 34741666
Forensic Sci Int Genet. 2017 May;28:138-145
pubmed: 28273506
Electrophoresis. 2018 Nov;39(21):2669-2673
pubmed: 30132945
Investig Genet. 2015 Jan 28;6:1
pubmed: 25750707
Int J Legal Med. 2021 Nov;135(6):2235-2246
pubmed: 34436655