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Interactive Biosoftware deep learning-based tool spliceai
Frequency of cryptic splice-altering MYBPC3 variants in a large cohort of HCM probands.
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MVTec Software GmbH annotation software mvtec deep learning tool v 22.10.0.0
Frequency of cryptic splice-altering MYBPC3 variants in a large cohort of HCM probands.
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MVTec Software GmbH deep learning tool
Frequency of cryptic splice-altering MYBPC3 variants in a large cohort of HCM probands.
Deep Learning Tool, supplied by MVTec Software GmbH, used in various techniques. Bioz Stars score: 90/100, based on 1 PubMed citations. ZERO BIAS - scores, article reviews, protocol conditions and more
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Frequency of cryptic splice-altering MYBPC3 variants in a large cohort of HCM probands.
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Frequency of cryptic splice-altering MYBPC3 variants in a large cohort of HCM probands.
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Frequency of cryptic splice-altering MYBPC3 variants in a large cohort of HCM probands.
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Image Search Results


Frequency of cryptic splice-altering MYBPC3 variants in a large cohort of HCM probands.

Journal: Scientific Reports

Article Title: Identification of an elusive spliceogenic MYBPC3 variant in an otherwise genotype-negative hypertrophic cardiomyopathy pedigree

doi: 10.1038/s41598-022-11159-y

Figure Lengend Snippet: Frequency of cryptic splice-altering MYBPC3 variants in a large cohort of HCM probands.

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).

Techniques: