Splicing mutations in human genetic disorders: examples, …
Recent research has underlined the abundance and importance of splicing mutations in the etiology of inherited diseases. The application of modern techniques allowed to identify synonymous and nonsynonymous variants as well as deep intronic mutations that affected pre-mRNA splicing.
Splicing mutations in human genetic disorders: examples ... - PubMed
Recent research has underlined the abundance and importance of splicing mutations in the etiology of inherited diseases. The application of modern techniques allowed to identify synonymous and nonsynonymous variants as well as deep intronic mutations that affected pre-mRNA splicing.
The missing puzzle piece: splicing mutations - PMC
2024年11月3日 · Splicing mutations are related with a number of genetic disorders and usually induce exon skipping, form new exon/intron boundaries or activate new cryptic exons as a result of alterations at donor/acceptor sites.
What’s Wrong in a Jump? Prediction and Validation of Splice Site ...
2024年9月1日 · Even though splicing variants may disrupt cis-acting splicing elements or involve trans-acting factor, usually the term “splicing variant” is used to refer to a mutation in the cis consensus sequences.
Splicing mutations in human genetic disorders: examples
Recent research has underlined the abundance and importance of splicing mutations in the etiology of inherited diseases. The application of modern techniques allowed to identify …
RNA mis-splicing in disease | Nature Reviews Genetics
2015年11月23日 · RNA splicing is a key regulatory step in gene expression that allows a limited genome to express an impressive diversity of coding and non-coding RNAs. RNA mis-splicing causes a large array...
The human splicing code reveals new insights into the genetic ...
Intronic disease mutations that are more than 30 nucleotides from any splice site alter splicing nine times as often as common variants, and missense exonic disease mutations that have the least impact on protein function are five times as likely as others to alter splicing.
(PDF) Splicing mutations in human genetic disorders: examples ...
2018年4月1日 · Recent research has underlined the abundance and importance of splicing mutations in the etiology of inherited diseases. The application of modern techniques allowed to identify synonymous and...
SpliceTransformer predicts tissue-specific splicing linked to …
2024年10月23日 · We present SpliceTransformer (SpTransformer), a deep-learning framework that predicts tissue-specific RNA splicing alterations linked to human diseases based on genomic sequence. SpTransformer...
Background splicing as a predictor of aberrant splicing in genetic ...
2022年2月19日 · Mutations of splice sites, auxiliary splicing elements and the splicing machinery cause a wide range of genetic disease. Here we report that many of the complex effects of splicing mutations can be predicted from background splicing information, with emphasis on BRCA1, BRCA2 and DMD.
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