Google DeepMind has launched AlphaGenome, an advanced DNA-reading AI model that can predict the impact of genetic mutations ...

Usage: Note that 5' splice site is represented by the upstream nucleotide (junction start) and 3' splice site is represented by the downstream nucleotide (junction end). Run following code to generate ...

TDP-43 prevents mis-splicing of STMN2 by blocking a cryptic-exon splice site. Antisense oligonucleotides that bind near the site do the same. The ASOs restored full-length STMN2 in TDP-43 mutant motor ...

MET exon 14 splice site mutation, protein expression, and amplification in pulmonary sarcomatoid carcinoma: A multi-center study from China.

Aside from mutations in the splice site consensus sequence, there have been numerous examples of genetic diseases in which abnormal splicing occurs due to changes in the auxiliary cis-elements ...

Here, we report that germline mutations in a novel component of the minor spliceosome (CENATAC / CCDC84) cause chromosomal instability in MVA patients. We identify CENATAC as a minor ...

However, interestingly, we found a novel ALSM1 mutation (c.11873–2A>T) at the intron 18–Exon-19 boundary, which is not reported in any of the public resource genetic databases like gnomAD,1000 genomes ...

Especially, Splice-AI analysis predicted a total of 14 splicing sites in the human PLCg1 gene, accurate delta scores, and positions were analyzed and a novel splicing site in exon 26 of human ...

Abstract Genetic analyses and systematic mutagenesis have revealed that synonymous, non-synonymous and intronic mutations frequently alter the inclusion levels of alternatively spliced exons, ...