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Forensic Implications of the Discrepancies Caused between NGS and CE Results by New Microvariant Allele at Penta E Microsatellite

Examination of STR markers using the MPS technology is becoming more common in forensic genetics, but scientists still have insufficient experience in dealing with ambiguous results. However, it is always essential to resolve discordant data if we want to use the technology as an accredited method i...

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Autores principales: Kocsis, Balázs, Mátrai, Norbert, Egyed, Balázs
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10218238/
https://www.ncbi.nlm.nih.gov/pubmed/37239469
http://dx.doi.org/10.3390/genes14051109
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author Kocsis, Balázs
Mátrai, Norbert
Egyed, Balázs
author_facet Kocsis, Balázs
Mátrai, Norbert
Egyed, Balázs
author_sort Kocsis, Balázs
collection PubMed
description Examination of STR markers using the MPS technology is becoming more common in forensic genetics, but scientists still have insufficient experience in dealing with ambiguous results. However, it is always essential to resolve discordant data if we want to use the technology as an accredited method in routine forensic casework. During the internal laboratory validation of the Precision ID GlobalFiler NGS STR Panel v2 kit, we observed two discrepant genotypes at Penta E locus compared to the previous capillary electrophoresis results. Each NGS software that we applied (i.e., Converge, STRaitRazor and IGV) returned the same 12,14 and 12,16 genotypes in the two samples, respectively, instead of the 11.3,14 and 11.3,16 genotypes previously observed with CE (Capillary electrophoresis) typing. In the case of the length variant 11.3 alleles, traditional Sanger sequencing confirmed a complete twelve repeat unit structure in both samples. However, after sequencing was extended to the flanking regions of the variant alleles, sequence data revealed a two-bases GG deletion downstream of the last TCTTT repeat motif in the forward strand. The determined allele variant has not been previously reported in the scientific literature and highlights the need for a careful evaluation and thorough concordance studies before using NGS STR data in forensic cases.
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spelling pubmed-102182382023-05-27 Forensic Implications of the Discrepancies Caused between NGS and CE Results by New Microvariant Allele at Penta E Microsatellite Kocsis, Balázs Mátrai, Norbert Egyed, Balázs Genes (Basel) Brief Report Examination of STR markers using the MPS technology is becoming more common in forensic genetics, but scientists still have insufficient experience in dealing with ambiguous results. However, it is always essential to resolve discordant data if we want to use the technology as an accredited method in routine forensic casework. During the internal laboratory validation of the Precision ID GlobalFiler NGS STR Panel v2 kit, we observed two discrepant genotypes at Penta E locus compared to the previous capillary electrophoresis results. Each NGS software that we applied (i.e., Converge, STRaitRazor and IGV) returned the same 12,14 and 12,16 genotypes in the two samples, respectively, instead of the 11.3,14 and 11.3,16 genotypes previously observed with CE (Capillary electrophoresis) typing. In the case of the length variant 11.3 alleles, traditional Sanger sequencing confirmed a complete twelve repeat unit structure in both samples. However, after sequencing was extended to the flanking regions of the variant alleles, sequence data revealed a two-bases GG deletion downstream of the last TCTTT repeat motif in the forward strand. The determined allele variant has not been previously reported in the scientific literature and highlights the need for a careful evaluation and thorough concordance studies before using NGS STR data in forensic cases. MDPI 2023-05-18 /pmc/articles/PMC10218238/ /pubmed/37239469 http://dx.doi.org/10.3390/genes14051109 Text en © 2023 by the authors. https://creativecommons.org/licenses/by/4.0/Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/).
spellingShingle Brief Report
Kocsis, Balázs
Mátrai, Norbert
Egyed, Balázs
Forensic Implications of the Discrepancies Caused between NGS and CE Results by New Microvariant Allele at Penta E Microsatellite
title Forensic Implications of the Discrepancies Caused between NGS and CE Results by New Microvariant Allele at Penta E Microsatellite
title_full Forensic Implications of the Discrepancies Caused between NGS and CE Results by New Microvariant Allele at Penta E Microsatellite
title_fullStr Forensic Implications of the Discrepancies Caused between NGS and CE Results by New Microvariant Allele at Penta E Microsatellite
title_full_unstemmed Forensic Implications of the Discrepancies Caused between NGS and CE Results by New Microvariant Allele at Penta E Microsatellite
title_short Forensic Implications of the Discrepancies Caused between NGS and CE Results by New Microvariant Allele at Penta E Microsatellite
title_sort forensic implications of the discrepancies caused between ngs and ce results by new microvariant allele at penta e microsatellite
topic Brief Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10218238/
https://www.ncbi.nlm.nih.gov/pubmed/37239469
http://dx.doi.org/10.3390/genes14051109
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