Paternity testing using <i>massively parallel sequencing</i> and the PowerSeq™ AUTO/Y system for short tandem repeat sequencing

Silva, Deborah S.B.S.; Sawitzki, Fernanda R.; Scheible, Melissa; Bailey, Sarah F.; Alho, Clarice Sampaio; Faith, Seth A.

doi:10.1002/elps.201800072

Cited by 12 publications

(5 citation statements)

References 16 publications

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“…Y-STRs are used when it is necessary to support the findings obtained with autosomal STRs in circumstances of male identification [23], such as in motherless paternity tests involving an alleged father and a male offspring, in the kinship analysis of half-siblings, and to reveal the male component in male-female mixtures in cases of sexual assault. MPS analysis of Y-STRs, which also highlights the sequence of the single allele and, when present, micro-variations from the reference sequence, can contribute: (1) to increase the paternity index values, (2) to explain allele inconsistencies due to single repeat mutation events between father and son and (3) in discriminating male relatives of first, second or third degree of relationship [24][25][26].…”

Section: Introductionmentioning

confidence: 99%

Concordance study on Y-STRs typing between SeqStudio™ genetic analyzer for HID and MiSeq™ FGx forensic genomics system

Soldati,

Turrina,

Treccani

et al. 2023

Mol Biol Rep

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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 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 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.

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Section: Introductionmentioning

confidence: 99%

Concordance study on Y-STRs typing between SeqStudio™ genetic analyzer for HID and MiSeq™ FGx forensic genomics system

Soldati,

Turrina,

Treccani

et al. 2023

Mol Biol Rep

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“…As a result, sequencing of STRs can be used as a molecular "fingerprint" of patient identity in tissue specimens. This is commonly employed in forensic pathology and paternity testing [15,16]. STR testing is a powerful molecular technique capable of confirming or excluding relationships between two specimens or individuals.…”

Section: Discussionmentioning

confidence: 99%

A rare case of heterotopic gastric mucosa of the rectum with complete intestinal metaplasia highlighting the utility of molecular microsatellite testing in diagnostic corroboration

Peterson¹

2022

Open J Clin Med Images

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“…Изначально метод STR-анализа применялся в судебной экспертизе при установлении личности подозреваемых, а также для определения степени родства [9][10][11][12]. Позже метод STR-анализа профилирования стал применяться в аутентификации КЛ при биомедицинских исследованиях различного характера [13].…”

Section: Scientific Centre For Expert Evaluation Of Medicinal Productunclassified

The Use of Short Tandem Repeat Analysis for Cell Line Authentication

Хорольский¹,

Семенова²,

Мельникова³

et al. 2019

Biopreparaty. Profilaktika, diagnostika, lechenie

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Short tandem repeat analysis (STR) is a well-established international method of authentication and genetic stability testing of cell lines (CLs). Therefore, the development and introduction of this method into routine practice of cell banks and cell culture collections is a pressing concern. In addition, the expansion of the field of cell-line based biomedical cell products (BСPs) necessitates the implementation of STR as a tool of identification testing during quality control. The State Pharmacopoeia of the Russian Federation does not require mandatory use of STR for cell line identification, while other countries have been using this method for cell line quality control for about a decade. The use of identified CLs in medical practice will ensure the efficacy and safety of BCPs.The aim of the study was to assess the possibility of using STR analysis for authentication and genetic stability testing of CLs using U937, WISH, WIL2-S, NK-92, and Jurkat Clone E6-1 CLs as examples.Materials and methods: the following human CLs were used in the study: U937 (ECACC), WISH (ATCC), WIL2S (ATCC), NK-92 (ATCC), and Jurkat Clone E6-1 (ATCC). The CL allelic profiles were determined by STR using the COrDIS Plus kit (Gordiz, Russia). The electrophoretic separation was performed using a Genetic Analyzer 3500 Series instrument. The data provided on the websites of the European Collection of Authenticated Cell Cultures and American Type Culture Collection were used to compare the CL profiles.Results: the AuthentiFiler PCR Amplification Kit (Thermo Fisher Scientific, USA) and the GenePrint 10 System (Promega Corporation, USA) intended for CL authentication by STR were compared with the characteristics of the COrDIS plus kit (Gordiz, Russia). The results of the comparison demonstrated that the COrDIS plus kit includes all the loci found in the foreign kits, as well as the loci recommended by the International Cell Line Authentication Committee. The U-937, WIL2S, and NK-92 CLs demonstrated genetic identity with the reference profiles available on the websites of the international collections. The Jurkat Clone E6-1 CL was found to be genetically instable due to the loss of the amelogenin gene.Conclusions: it was demonstrated by the examples of U937, WISH, WIL2-S, NK-92, and Jurkat Clone E6-1 CLs that STR and the COrDIS plus kit could be used for authentication and genetic stability testing. The obtained results suggest the feasibility of using the COrDIS plus kit for the analysis of CLs used in BCPs, for BCP quality control, and biomedical research.

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Paternity testing using massively parallel sequencing and the PowerSeq™ AUTO/Y system for short tandem repeat sequencing

Cited by 12 publications

References 16 publications

Concordance study on Y-STRs typing between SeqStudio™ genetic analyzer for HID and MiSeq™ FGx forensic genomics system

Concordance study on Y-STRs typing between SeqStudio™ genetic analyzer for HID and MiSeq™ FGx forensic genomics system

A rare case of heterotopic gastric mucosa of the rectum with complete intestinal metaplasia highlighting the utility of molecular microsatellite testing in diagnostic corroboration

The Use of Short Tandem Repeat Analysis for Cell Line Authentication

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