دانلود مقاله انگلیسی رایگان:توسعه و اعتبارسنجی ابزار اصلی VISAGE AmpliSeq برای پیش بینی ظاهر و نسب از DNA - 2020
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  • Development and validation of the VISAGE AmpliSeq basic tool to predict appearance and ancestry from DNA Development and validation of the VISAGE AmpliSeq basic tool to predict appearance and ancestry from DNA
    Development and validation of the VISAGE AmpliSeq basic tool to predict appearance and ancestry from DNA

    سال انتشار:

    2020


    عنوان انگلیسی مقاله:

    Development and validation of the VISAGE AmpliSeq basic tool to predict appearance and ancestry from DNA


    ترجمه فارسی عنوان مقاله:

    توسعه و اعتبارسنجی ابزار اصلی VISAGE AmpliSeq برای پیش بینی ظاهر و نسب از DNA


    منبع:

    Sciencedirect - Elsevier - Forensic Science International: Genetics, 48 (2020) 102336. doi:10.1016/j.fsigen.2020.102336


    نویسنده:

    Catarina Xaviera,*, Maria de la Puentea,b, Ana Mosquera-Miguelb, Ana Freire-Aradasb, Vivian Kalamarac, Athina Vidakic, Theresa E. Grossd, Andrew Revoire, Ewelina Pośpiechf, Ewa Kartasińskag, Magdalena Spólnickag, Wojciech Branickif,g, Carole E. Amese, Peter M. Schneiderd, Carsten Hohoffh, Manfred Kayserc, Christopher Phillipsb, Walther Parsona,i,*, on behalf of the VISAGE Consortium


    چکیده انگلیسی:

    Forensic DNA phenotyping is gaining interest as the number of applications increases within the forensic genetics community. The possibility of providing investigative leads in addition to conventional DNA profiling for human identification provides new insights into otherwise “cold” police investigations. The ability of reporting on the bio-geographical ancestry (BGA), appearance characteristics and age based on DNA obtained from a crime scene sample of an unknown donor makes the exploration of such markers and the development of new methods meaningful for criminal investigations. The VISible Attributes through GEnomics (VISAGE) Consortium aims to disseminate and broaden the use of predictive markers and develop fully optimized and validated prototypes for forensic casework implementation. Here, the first VISAGE appearance and ancestry tool development, performance and validation is reported. A total of 153 SNPs (96.84 % assay conversion rate) were successfully incorporated into a single multiplex reaction using the AmpliSeq™ design pipeline, and applied for massively parallel sequencing with the Ion S5 platform. A collaborative effort involving six VISAGE laboratory partners was devised to perform all validation tests. An extensive validation plan was carefully organized to explore the assay’s overall performance with optimum and low-input samples, as well as with challenging and casework mock samples. In addition, forensic validation studies such as concordance and mixture tests recurring to the Coriell sample set with known genotypes were performed. Finally, inhibitor tolerance and specificity were also evaluated. Results showed a robust, highly sensitive assay with good overall concordance between laboratories.
    Keywords: Forensic DNA phenotyping | Appearance and bio-geographical ancestry | prediction | MPS Ion S5 | AmpliSeq | SNP multiplex


    سطح: متوسط
    تعداد صفحات فایل pdf انگلیسی: 10
    حجم فایل: 1399 کیلوبایت

    قیمت: رایگان


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