computational tools (Sophia Genetics)
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Sophia Genetics
computational tools
Computational Tools, 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/computation+tool/Alamut+Visual+Plus/pm41595494-58-23-25
Average 97 stars, based on 1558 article reviews
Computational Tools, 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/computation+tool/Alamut+Visual+Plus/pm41595494-58-23-25
Average 97 stars, based on 1558 article reviews
computational tools - by Bioz Stars,
2026-10
97/100 stars
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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 Article Title: Splice-site variants in neurology: from molecular mechanisms to clinical interpretation - a focused review. Article Snippet: 1 Department of Neurology, National Institute of Mental Health and Neurosciences (NIMHANS), Hosur Road, Bengaluru, Karnataka 560029, India Abstract Variants that disrupt pre-mRNA splicing represent a historically underrecognized proportion of pathogenic alleles in Mendelian neurological disorders, accounting for an estimated 15–30% of disease-causing variants.. Conventional clinical genomic pipelines frequently overlook these variants because analysis and reporting have traditionally focused on protein-coding regions, with intronic and synonymous positions assigned lower priority.. The central practical problem this review addresses is therefore not whether splicing matters in neurogenetic disease — that is well established — but how a splice-altering variant identified on a diagnostic report can be reliably identified, experimentally validated, and translated into a clinical diagnosis or therapeutic decision. In Silico:Article Title: Clinical utility of prenatal exome sequencing after normal chromosomal microarray in fetuses with structural anomalies. Article Snippet: .. Some f in silico pathogenicity prediction software were used, ncluding Article Title: Diagnostic yield of cancer predisposition in a nationwide prospective childhood acute leukemia cohort Article Snippet: .. Predicted splice effects were assessed using in silico tools, including SpliceAI (generated as a separate annotation within the analysis pipelines where available) and the splice-prediction algorithms implemented in Software:Article Title: Clinical utility of prenatal exome sequencing after normal chromosomal microarray in fetuses with structural anomalies. Article Snippet: .. Some f in silico pathogenicity prediction software were used, ncluding 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 Generated:Article Title: Diagnostic yield of cancer predisposition in a nationwide prospective childhood acute leukemia cohort Article Snippet: .. Predicted splice effects were assessed using in silico tools, including SpliceAI (generated as a separate annotation within the analysis pipelines where available) and the splice-prediction algorithms implemented in Analysis:Article Title: Diagnostic yield of cancer predisposition in a nationwide prospective childhood acute leukemia cohort Article Snippet: .. Predicted splice effects were assessed using in silico tools, including SpliceAI (generated as a separate annotation within the analysis pipelines where available) and the splice-prediction algorithms implemented in |