Spliceogen: an integrative, scalable tool for the discovery of splice-altering variants
Sign Up to like & getrecommendations! Published in 2019 at "Bioinformatics"
DOI: 10.1093/bioinformatics/btz263
Abstract: MOTIVATION In silico prediction tools are essential for identifying variants which create or disrupt cis splicing motifs. However, there are limited options for genome-scale discovery of splice-altering variants. RESULTS We have developed Spliceogen, a highly… read more here.
Keywords: tool; altering variants; splice altering; discovery splice ... See more keywords
Contribution of Previously Unrecognized RNA Splice-Altering Variants to Congenital Heart Disease.
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DOI: 10.1161/circgen.122.003924
Abstract: BACKGROUND Known genetic causes of congenital heart disease (CHD) explain read more here.
Keywords: splice; rna splicing; congenital heart; splice altering ... See more keywords
Exon Size and Sequence Conservation Improves Identification of Splice Altering Nucleotides.
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DOI: 10.1261/rna.070987.119
Abstract: Pre-mRNA splicing is regulated through multiple trans-acting splicing factors. These regulators interact with the pre-mRNA at intronic and exonic positions. Given that most exons are protein coding, the evolution of exons must be modulated by… read more here.
Keywords: conservation; exon size; splice altering; size ... See more keywords
First Identification of Rare Exonic and Deep Intronic Splice-Altering Variants in Patients With Beta-Sarcoglycanopathy
Sign Up to like & getrecommendations! Published in 2022 at "Frontiers in Pediatrics"
DOI: 10.3389/fped.2022.900280
Abstract: Background The precise genetic diagnosis of a sarcoglycanopathy or dystrophinopathy is sometimes extremely challenging, as pathogenic non-coding variants and/or complex structural variants do exist in DMD or sarcoglycan genes. This study aimed to determine the… read more here.
Keywords: splice; deep intronic; altering variants; splice altering ... See more keywords