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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.
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
deep learning-based tool spliceai - by Bioz Stars, 2026-09
90/100 stars

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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

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



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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.
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
deep learning-based tool spliceai - by Bioz Stars, 2026-09
90/100 stars
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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: