Review



alamut batch v1 8  (Sophia Genetics)


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    Structured Review

    Sophia Genetics alamut batch v1 8
    ABCA4 coverage comparison of different assays. Screenshot of the <t>Alamut</t> Visual software showing the coverage results for the ABCA4 locus from different next-generation sequencing assays. On the top, the software illustrates the relative exon locations. Below the gene structure, coverage plots for a typical whole-exome sequencing assay (top), custom capture probes assay (middle), and, finally, the long-range polymerase chain reaction method (bottom).
    Alamut Batch V1 8, supplied by Sophia Genetics, used in various techniques. Bioz Stars score: 97/100, based on 1585 PubMed citations. ZERO BIAS - scores, article reviews, protocol conditions and more
    https://www.bioz.com/product/Sequence+Annotation+Software/Alamut+Visual+Plus/pmc07913364-432-10-13
    Average 97 stars, based on 1585 article reviews
    alamut batch v1 8 - by Bioz Stars, 2026-11
    97/100 stars

    Images

    1) Product Images from "Long-Range PCR-Based NGS Applications to Diagnose Mendelian Retinal Diseases"

    Article Title: Long-Range PCR-Based NGS Applications to Diagnose Mendelian Retinal Diseases

    Journal: International Journal of Molecular Sciences

    doi: 10.3390/ijms22041508

    ABCA4 coverage comparison of different assays. Screenshot of the Alamut Visual software showing the coverage results for the ABCA4 locus from different next-generation sequencing assays. On the top, the software illustrates the relative exon locations. Below the gene structure, coverage plots for a typical whole-exome sequencing assay (top), custom capture probes assay (middle), and, finally, the long-range polymerase chain reaction method (bottom).
    Figure Legend Snippet: ABCA4 coverage comparison of different assays. Screenshot of the Alamut Visual software showing the coverage results for the ABCA4 locus from different next-generation sequencing assays. On the top, the software illustrates the relative exon locations. Below the gene structure, coverage plots for a typical whole-exome sequencing assay (top), custom capture probes assay (middle), and, finally, the long-range polymerase chain reaction method (bottom).

    Techniques Used: Comparison, Software, Next-Generation Sequencing, Sequencing, Polymerase Chain Reaction

    Related Articles

    In Silico:

    Article Title: Beyond Newborn Screening: Clinical Outcomes and Genotypic Spectrum Underlying Maple Syrup Urine Disease in Mexico
    Article Snippet: .. In silico evaluation through MaxEnt, NNSplice, and GeneSplicer programs contained in the module of splicing effect predictors of the Alamut Visual Plus v.1.13 software ( SOPHiA GENETICS, Rolle, Switzerland) predicts, with a mean probability of 98.4% (91.47–99.96%) an impact on correct splicing of exon 2 due to alteration of the polypyrimidine tract and the possible activation of an intronic cryptic acceptor splicing site ..

    Software:

    Article Title: Beyond Newborn Screening: Clinical Outcomes and Genotypic Spectrum Underlying Maple Syrup Urine Disease in Mexico
    Article Snippet: .. In silico evaluation through MaxEnt, NNSplice, and GeneSplicer programs contained in the module of splicing effect predictors of the Alamut Visual Plus v.1.13 software ( SOPHiA GENETICS, Rolle, Switzerland) predicts, with a mean probability of 98.4% (91.47–99.96%) an impact on correct splicing of exon 2 due to alteration of the polypyrimidine tract and the possible activation of an intronic cryptic acceptor splicing site ..

    Article Title: Father and son with a pathogenic variant c.614dup p.(Gln206Thrfs*20) in the NR5A1 gene: a case report.
    Article Snippet: Results were confirmed through polymerase chain reaction (PCR) and targeted Sanger sequencing on an ABI 3130xl Genetic Analyzer (Applied Biosystems, Foster City, CA, USA) using a BigDye Terminator v3.1 Cycle Sequencing Kit (Applied Biosystems), following the manufacturer’s protocol in both directions. .. Electropherograms were analyzed using Chromas Lite MFC Application, v.2.6.6 (Technelysium, Australia), and Alamut Visual Plus software, v.1.6.1 (SOPHiA GENETICS, Switzerland). ..

    Activation Assay:

    Article Title: Beyond Newborn Screening: Clinical Outcomes and Genotypic Spectrum Underlying Maple Syrup Urine Disease in Mexico
    Article Snippet: .. In silico evaluation through MaxEnt, NNSplice, and GeneSplicer programs contained in the module of splicing effect predictors of the Alamut Visual Plus v.1.13 software ( SOPHiA GENETICS, Rolle, Switzerland) predicts, with a mean probability of 98.4% (91.47–99.96%) an impact on correct splicing of exon 2 due to alteration of the polypyrimidine tract and the possible activation of an intronic cryptic acceptor splicing site ..



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