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plus version 1 12  (Sophia Genetics)


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    Structured Review

    Sophia Genetics plus version 1 12
    Plus Version 1 12, supplied by Sophia Genetics, used in various techniques. Bioz Stars score: 97/100, based on 1558 PubMed citations. ZERO BIAS - scores, article reviews, protocol conditions and more
    https://www.bioz.com/product/version+12+1/Alamut+Visual+Plus/pm41947040-360-6-4
    Average 97 stars, based on 1558 article reviews
    plus version 1 12 - by Bioz Stars, 2026-11
    97/100 stars

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    Related Articles

    In Silico:

    Article Title: Genetic inactivation of FAAP100 causes Fanconi anemia due to disruption of the monoubiquitin ligase core complex
    Article Snippet: .. In silico analyses using, among others (see Methods), Alamut Visual Plus, version 1.12 ( https://www.sophiagenetics.com/sophia-ddm-for-genomics/alamut-visual-plus/ ), and AlphaMissense ( https://alphamissense.hegelab.org/ ) classify the substitution as a variant of unknown significance or likely pathogenic, respectively. ..

    Article Title: Deciphering the Causative Role of a Novel APC Gene Variant in Attenuated Familial Adenomatous Polyposis Using Germline DNA-RNA Paired Testing
    Article Snippet: .. In silico splicing prediction tool algorithms (SSF, MES, NNS, and GS) integrated into Alamut Visual Plus version 1.12 (Sophia Genetics SAS, Bidart, France, accessed on 10 September 2025) revealed that the APC gene variant ( NM_000038.6 : c.1620_1624delinsT) may result in a splice defect due to loss of the canonical donor site at position c.1626 of the APC gene ( ). ..

    Article Title: Deciphering the Causative Role of a Novel APC Gene Variant in Attenuated Familial Adenomatous Polyposis Using Germline DNA-RNA Paired Testing
    Article Snippet: .. In silico splicing prediction tool algorithms (SSF, MES, NNS, and GS) integrated into Alamut Visual Plus version 1.12 (Sophia Genetics SAS, Bidart, France, accessed on 10 September 2025) revealed that the APC gene variant (NM_000038.6: c.1620_1624delinsT) may result in a splice defect due to loss of the canonical donor site at position c.1626 of the APC gene (Figure S1a,b). ..

    Variant Assay:

    Article Title: Genetic inactivation of FAAP100 causes Fanconi anemia due to disruption of the monoubiquitin ligase core complex
    Article Snippet: .. In silico analyses using, among others (see Methods), Alamut Visual Plus, version 1.12 ( https://www.sophiagenetics.com/sophia-ddm-for-genomics/alamut-visual-plus/ ), and AlphaMissense ( https://alphamissense.hegelab.org/ ) classify the substitution as a variant of unknown significance or likely pathogenic, respectively. ..

    Article Title: Deciphering the Causative Role of a Novel APC Gene Variant in Attenuated Familial Adenomatous Polyposis Using Germline DNA-RNA Paired Testing
    Article Snippet: .. In silico splicing prediction tool algorithms (SSF, MES, NNS, and GS) integrated into Alamut Visual Plus version 1.12 (Sophia Genetics SAS, Bidart, France, accessed on 10 September 2025) revealed that the APC gene variant ( NM_000038.6 : c.1620_1624delinsT) may result in a splice defect due to loss of the canonical donor site at position c.1626 of the APC gene ( ). ..

    Article Title: Deciphering the Causative Role of a Novel APC Gene Variant in Attenuated Familial Adenomatous Polyposis Using Germline DNA-RNA Paired Testing
    Article Snippet: .. In silico splicing prediction tool algorithms (SSF, MES, NNS, and GS) integrated into Alamut Visual Plus version 1.12 (Sophia Genetics SAS, Bidart, France, accessed on 10 September 2025) revealed that the APC gene variant (NM_000038.6: c.1620_1624delinsT) may result in a splice defect due to loss of the canonical donor site at position c.1626 of the APC gene (Figure S1a,b). ..



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