Forensic validation of the SNPforID 52-plex assay

Musgrave-Brown, E.; Ballard, David J.; Balogh, Kinga; Bender, Klaus; Berger, Burkhard; Bogus, Magdalena; Børsting, Claus; Brión, Marı́a; Fondevila, M.; Harrison, C.; Oguzturun, C.; Parson, Walther; Phillips, C.; Proff, C.; Ramos-Luis, Eva; Sánchez, Juan José Martínez; Diz, Paula Sánchez; Rey, Bea Sobrino; Stradmann‐Bellinghausen, Beate; Thacker, C.R.; Carracedo, Ángel; Morling, Niels; Scheithauer, R; Schneider, Peter M.; Court, Denise Syndercombe

doi:10.1016/j.fsigen.2007.01.004

Cited by 79 publications

(42 citation statements)

References 9 publications

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“…However, PCR-SBE-CE assays are not widely used, most likely because there are no commercial kits available and no commercial software solutions designed for analysis of SBE products. Analyses of the SNP electropherograms were challenging [13,17] and small sized peaks from PCR products or PCR primers extended with ddNTPs in the SBE reaction are sometimes detected and misinterpreted as true alleles [18,19].…”

Section: Introductionmentioning

confidence: 99%

Evaluation of the Ion Torrent™ HID SNP 169-plex: A SNP typing assay developed for human identification by second generation sequencing

Børsting

Fordyce

Olofsson

et al. 2014

Forensic Science International: Genetics

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100

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Section: Introductionmentioning

confidence: 99%

Evaluation of the Ion Torrent™ HID SNP 169-plex: A SNP typing assay developed for human identification by second generation sequencing

Børsting

Fordyce

Olofsson

et al. 2014

Forensic Science International: Genetics

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100

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“…The currently most popular noncommercial SNP multiplex was developed by the SNPforID consortium and is based on a single 52-locus PCR multiplex, followed by two 23-and 29-plex typing reactions based on the 'single base extension' (SBE) concept (also termed 'minisequencing') [43,44]. The advantage of this method is that the minisequencing extension products can be separated by capillary gel electrophoresis and identified by fragment length and color of the fluorochrome-labeled single-stranded extension products -a technology available in all forensic genetic laboratories.…”

Section: «Short Tandem Repeat»(str)-polymorphismen Sind Alsmentioning

confidence: 99%

Beyond STRs: The Role of Diallelic Markers in Forensic Genetics

Schneider¹

2012

Transfus Med Hemother

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Short tandem repeat (STR) polymorphisms have been firmly established as standard DNA marker systems since more than 15 years both in forensic stain typing as well as in paternity and kinship testing. However, when analyzing genetic relationships in deficiency cases, STRs have a couple of disadvantages due to the sometimes poor biostatistical efficiency as well as the possibility to observe one or more genetic inconsistencies that could also be explained by mutational events. In such situations, additional robust markers with negligible mutations rates such as single nucleotide polymorphisms (SNPs) and insertion/deletion markers (indels) can be used as adjuncts to provide decisive genetic information in favor for or against the assumed relationship. Both SNPs and indels can now be typed more easily using multiplexes of up to 50 loci based on fragment length analysis on instruments available in all routine forensic and paternity testing laboratories, thus making it possible to extend the range of markers beyond the currently used STRs.

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“…The SBE-based SNP typing assay of the SNPforID 52-plex was validated for forensic genetic investigations [4] and it performed better than the most commonly used STR kits when partly degraded DNA samples were investigated [2,4]. Nevertheless, the unspecific addition of dA nucleotides at the end of the PCR products by the Taq polymerase [11] and the fact that the signal strength of the four colours in the SNaPshot 1 kit (AB) is unbalanced makes the interpretation of the results challenging [12].…”

Section: à19mentioning

confidence: 99%

“…Short DNA fragments with SNPs can be amplified, which makes it possible to analyze SNPs in partly degraded DNA samples [1,2,4]. Moreover, the low mutation rate of SNPs is an important advantage in kinship analysis [3].…”

mentioning

confidence: 99%