Large‐scale comparative evaluation of user‐friendly tools for predicting variant‐induced alterations of splicing regulatory elements
H Tubeuf, C Charbonnier, O Soukarieh… - Human …, 2020 - Wiley Online Library
Discriminating which nucleotide variants cause disease or contribute to phenotypic traits
remains a major challenge in human genetics. In theory, any intragenic variant can …
remains a major challenge in human genetics. In theory, any intragenic variant can …
Cancer-associated perturbations in alternative pre-messenger RNA splicing
For most of our 25,000 genes, the removal of introns by pre-messenger RNA (pre-mRNA)
splicing represents an essential step toward the production of functional messenger RNAs …
splicing represents an essential step toward the production of functional messenger RNAs …
Automated splicing mutation analysis by information theory
VK Nalla, PK Rogan - Human mutation, 2005 - Wiley Online Library
Abstract Information theory–based software tools have been useful in interpreting noncoding
sequence variation within functional sequence elements such as splice sites. Individual …
sequence variation within functional sequence elements such as splice sites. Individual …
Deep splicing code: Classifying alternative splicing events using deep learning
Alternative splicing (AS) is the process of combining different parts of the pre-mRNA to
produce diverse transcripts and eventually different protein products from a single gene. In …
produce diverse transcripts and eventually different protein products from a single gene. In …
Genome wide identification and classification of alternative splicing based on EST data
S Gupta, D Zink, B Korn, M Vingron, SA Haas - Bioinformatics, 2004 - academic.oup.com
Motivation: Alternative splicing is currently seen to explain the vast disparity between the
number of predicted genes in the human genome and the highly diverse proteome. The …
number of predicted genes in the human genome and the highly diverse proteome. The …
Aberrant splicing prediction across human tissues
Aberrant splicing is a major cause of genetic disorders but its direct detection in
transcriptomes is limited to clinically accessible tissues such as skin or body fluids. While …
transcriptomes is limited to clinically accessible tissues such as skin or body fluids. While …
Bioinformatics of alternative splicing and its regulation
L Florea - Briefings in Bioinformatics, 2006 - academic.oup.com
The sequencing of the human genome and ensuing wave of data generation have brought
new light upon the extent and importance of alternative splicing as an RNA regulatory …
new light upon the extent and importance of alternative splicing as an RNA regulatory …
Searching for splicing motifs
LA Chasin - Alternative splicing in the postgenomic era, 2007 - Springer
Intron removal during pre-mRNA splicing in higher eukaryotes requires the accurate
identification of the two splice sites at the ends of the exons, or exon definition. The …
identification of the two splice sites at the ends of the exons, or exon definition. The …
Epigenome-based splicing prediction using a recurrent neural network
Alternative RNA splicing provides an important means to expand metazoan transcriptome
diversity. Contrary to what was accepted previously, splicing is now thought to …
diversity. Contrary to what was accepted previously, splicing is now thought to …
TCGASpliceSeq a compendium of alternative mRNA splicing in cancer
TCGA's RNASeq data represent one of the largest collections of cancer transcriptomes ever
assembled. RNASeq technology, combined with computational tools like our SpliceSeq …
assembled. RNASeq technology, combined with computational tools like our SpliceSeq …