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Interpreting Mixture Profiles: Comparison between Precision ID GlobalFiler™ NGS STR Panel v2 and Traditional Methods.
Genes (Basel). 2020 05 26; 11(6)G

Abstract

Forensic investigation for the identification of offenders, recognition of human remains, and verification of family relationships requires the analysis of particular types of highly informative DNA markers, which have high discriminatory power and are efficient for typing degraded samples. These markers, called STRs (Short Tandem Repeats), can be amplified by multiplex-PCR (Polymerase Chain Reaction) allowing attainment of a unique profile through which it is possible to distinguish one individual from another with a high statistical significance. The rapid and progressive evolution of analytical techniques and the advent of Next-Generation Sequencing (NGS) have completely revolutionized the DNA sequencing approach. This technology, widely used today in the diagnostic field, has the advantage of being able to process several samples in parallel, producing a huge volume of data in a short time. At this time, although default parameters of interpretation software are available, there is no general agreement on the interpretation rules of forensic data produced via NGS technology. Here we report a pilot study aimed for a comparison between NGS (Precision ID GlobalFiler™ NGS STR Panel v2, Thermo Fisher Scientific, Waltham, MA, USA) and traditional methods in their ability to identify major and minor contributors in DNA mixtures from saliva and urine samples. A quantity of six mixed samples were prepared for both saliva and urine samples from donors. A total of 12 mixtures were obtained in the ratios of 1:2; 1:4; 1:6; 1:8; 1:10; and 1:20 between minor and major contributors. Although the number of analyzed mixtures is limited, our results confirm that NGS technology offers a huge range of additional information on samples, but cannot ensure a higher sensitivity in respect to traditional methods. Finally, the Precision ID GlobalFiler™ NGS STR Panel v2 is a powerful method for kinship analyses and typing reference samples, but its use in biological evidence should be carefully considered on the basis of the characteristics of the evidence.

Links

Authors+Show Affiliations

Department of Biomedicine and Prevention, Tor Vergata University of Rome, 00133 Rome, Italy.

Genomic Medicine Laboratory UILDM, Santa Lucia Foundation IRCCS, 00142 Rome, Italy.

Department of Biomedicine and Prevention, Tor Vergata University of Rome, 00133 Rome, Italy.

Department of Biomedicine and Prevention, Tor Vergata University of Rome, 00133 Rome, Italy.

Department of Biomedicine and Prevention, Tor Vergata University of Rome, 00133 Rome, Italy.

Department of Biomedicine and Prevention, Tor Vergata University of Rome, 00133 Rome, Italy.

Department of Biomedicine and Prevention, Tor Vergata University of Rome, 00133 Rome, Italy.

Department of Biomedicine and Prevention, Tor Vergata University of Rome, 00133 Rome, Italy. Genomic Medicine Laboratory UILDM, Santa Lucia Foundation IRCCS, 00142 Rome, Italy.

MeSH

Body RemainsDNADNA FingerprintingForensic GeneticsGenetic MarkersHigh-Throughput Nucleotide SequencingHumansMicrosatellite RepeatsMultiplex Polymerase Chain ReactionPolymorphism, Single NucleotideSalivaUrine

Pub Type(s)

Journal Article

Language

eng

PubMed ID

32466613

Citation

Ragazzo, Michele, et al. "Interpreting Mixture Profiles: Comparison Between Precision ID GlobalFiler™ NGS STR Panel V2 and Traditional Methods." Genes, vol. 11, no. 6, 2020.

Ragazzo M, Carboni S, Caputo V, et al. Interpreting Mixture Profiles: Comparison between Precision ID GlobalFiler™ NGS STR Panel v2 and Traditional Methods. Genes (Basel). 2020;11(6).

Ragazzo, M., Carboni, S., Caputo, V., Buttini, C., Manzo, L., Errichiello, V., Puleri, G., & Giardina, E. (2020). Interpreting Mixture Profiles: Comparison between Precision ID GlobalFiler™ NGS STR Panel v2 and Traditional Methods. Genes, 11(6). https://doi.org/10.3390/genes11060591

Ragazzo M, et al. Interpreting Mixture Profiles: Comparison Between Precision ID GlobalFiler™ NGS STR Panel V2 and Traditional Methods. Genes (Basel). 2020 05 26;11(6) PubMed PMID: 32466613.

* Article titles in AMA citation format should be in sentence-case

TY - JOUR T1 - Interpreting Mixture Profiles: Comparison between Precision ID GlobalFiler™ NGS STR Panel v2 and Traditional Methods. AU - Ragazzo,Michele, AU - Carboni,Stefania, AU - Caputo,Valerio, AU - Buttini,Carlotta, AU - Manzo,Laura, AU - Errichiello,Valeria, AU - Puleri,Giulio, AU - Giardina,Emiliano, Y1 - 2020/05/26/ PY - 2020/04/14/received PY - 2020/04/28/revised PY - 2020/05/22/accepted PY - 2020/5/30/entrez PY - 2020/5/30/pubmed PY - 2021/3/20/medline KW - DNA typing KW - forensic genomics KW - mixtures KW - next-generation sequencing (NGS) JF - Genes JO - Genes (Basel) VL - 11 IS - 6 N2 - Forensic investigation for the identification of offenders, recognition of human remains, and verification of family relationships requires the analysis of particular types of highly informative DNA markers, which have high discriminatory power and are efficient for typing degraded samples. These markers, called STRs (Short Tandem Repeats), can be amplified by multiplex-PCR (Polymerase Chain Reaction) allowing attainment of a unique profile through which it is possible to distinguish one individual from another with a high statistical significance. The rapid and progressive evolution of analytical techniques and the advent of Next-Generation Sequencing (NGS) have completely revolutionized the DNA sequencing approach. This technology, widely used today in the diagnostic field, has the advantage of being able to process several samples in parallel, producing a huge volume of data in a short time. At this time, although default parameters of interpretation software are available, there is no general agreement on the interpretation rules of forensic data produced via NGS technology. Here we report a pilot study aimed for a comparison between NGS (Precision ID GlobalFiler™ NGS STR Panel v2, Thermo Fisher Scientific, Waltham, MA, USA) and traditional methods in their ability to identify major and minor contributors in DNA mixtures from saliva and urine samples. A quantity of six mixed samples were prepared for both saliva and urine samples from donors. A total of 12 mixtures were obtained in the ratios of 1:2; 1:4; 1:6; 1:8; 1:10; and 1:20 between minor and major contributors. Although the number of analyzed mixtures is limited, our results confirm that NGS technology offers a huge range of additional information on samples, but cannot ensure a higher sensitivity in respect to traditional methods. Finally, the Precision ID GlobalFiler™ NGS STR Panel v2 is a powerful method for kinship analyses and typing reference samples, but its use in biological evidence should be carefully considered on the basis of the characteristics of the evidence. SN - 2073-4425 UR - https://www.unboundmedicine.com/medline/citation/32466613/Interpreting_Mixture_Profiles:_Comparison_between_Precision_ID_GlobalFiler™_NGS_STR_Panel_v2_and_Traditional_Methods_ DB - PRIME DP - Unbound Medicine ER -