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genesplicer programs (Sophia Genetics)

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Structured Review

Sophia Genetics genesplicer programs
Genesplicer Programs, 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/programming/Alamut+Visual+Plus/pmc13692513-234-7-19
Average 97 stars, based on 1558 article reviews

genesplicer programs - by Bioz Stars, 2026-11

97/100 stars

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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: 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:

Variant Assay:

Article Title: Clinical and molecular characterization of non-PIK3CA-related vascular malformations with overgrowth in a pediatric cohort.
Article Snippet: .. Variant filtering, prioritization, and annotation of single nucleotide variants (SNVs) and small insertions/deletions (indels) were conducted using Alamut Visual Plus 1.13, Emedgene v.36.10.0, Illumina Connected Analytics 2.43.0, and Illumina Connected Insights 5.3.1. ..