deep learning-based tool spliceai (Interactive Biosoftware)
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Deep Learning Based Tool Spliceai, supplied by Interactive Biosoftware, used in various techniques. Bioz Stars score: 90/100, based on 1 PubMed citations. ZERO BIAS - scores, article reviews, protocol conditions and more
https://www.bioz.com/product/deep+learning-based+tool+spliceai/deep+learning+based+tool+spliceai/pmc09068804-365-15-47
Average 90 stars, based on 1 article reviews
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1) Product Images from "Identification of an elusive spliceogenic MYBPC3 variant in an otherwise genotype-negative hypertrophic cardiomyopathy pedigree"
Article Title: Identification of an elusive spliceogenic MYBPC3 variant in an otherwise genotype-negative hypertrophic cardiomyopathy pedigree
Journal: Scientific Reports
doi: 10.1038/s41598-022-11159-y
Figure Legend Snippet: Frequency of cryptic splice-altering MYBPC3 variants in a large cohort of HCM probands.
Techniques Used:
Related Articles
Variant Assay:Article Title: Identification of an elusive spliceogenic MYBPC3 variant in an otherwise genotype-negative hypertrophic cardiomyopathy pedigree Article Snippet: The probability of a variant being splice-altering was estimated in silico using the deep learning-based tool SpliceAI with a window of ± 200 bp (maximum distance of analyzed nucleotides from the variant) unless otherwise indicated, and the splicing prediction module of the software package Alamut Visual (v.2.11.0, Interactive Biosoftware). In Silico:Article Title: Identification of an elusive spliceogenic MYBPC3 variant in an otherwise genotype-negative hypertrophic cardiomyopathy pedigree Article Snippet: The probability of a variant being splice-altering was estimated in silico using the deep learning-based tool SpliceAI with a window of ± 200 bp (maximum distance of analyzed nucleotides from the variant) unless otherwise indicated, and the splicing prediction module of the software package Alamut Visual (v.2.11.0, Interactive Biosoftware). Software:Article Title: Identification of an elusive spliceogenic MYBPC3 variant in an otherwise genotype-negative hypertrophic cardiomyopathy pedigree Article Snippet: The probability of a variant being splice-altering was estimated in silico using the deep learning-based tool SpliceAI with a window of ± 200 bp (maximum distance of analyzed nucleotides from the variant) unless otherwise indicated, and the splicing prediction module of the software package Alamut Visual (v.2.11.0, Interactive Biosoftware). |