Representative set of mutations which significantly alter splicing in all evidence types analyzed by Veridical (i.e. cryptic splice site use, exon skipping, intron inclusion). Mutations are linked to their page on https://validsplicemut.cytognomix.com/, which provides additional material such as RNA-Seq images of the regions of interest
<p>(A) Bar graph representation of altered splicing events in case R08-269A. The number of events in...
Variations in new splicing regulatory elements are difficult to identify exclusively by sequence ins...
F each mutation within its exon, calculated as percentage of exon length. The lone spike around the ...
Source data computed by the Shannon pipeline and Veridical, displayed on the ValidSpliceMut (https:/...
The frequency distribution of mutation-induced aberrant 3' splice sites (3'ss) in exons and introns ...
We compiled sequences of previously published aberrant 3' splice sites (3'ss) that were generated by...
Interpretation of variants present in complete genomes or exomes reveals numerous sequence changes, ...
We present a major public resource of mRNA splicing mutations validated according to multiple lines ...
Non-coding mutations can create splice sites, however the true extent of how such somatic non-coding...
Despite a growing number of splicing mutations found in hereditary diseases, utilization of aberrant...
DBASS3 and DBASS5 provide comprehensive repositories of new exon boundaries that were induced by pat...
Despite a growing number of splicing mutations found in hereditary diseases, utilization of aberrant...
Ensus value (CV) method. Donor and acceptor sites are considered separately. The vertical dashed lin...
The interpretation of genomic variants has become one of the paramount challenges in the post-genome...
The interpretation of genomic variants has become one of the paramount challenges in the post-genome...
<p>(A) Bar graph representation of altered splicing events in case R08-269A. The number of events in...
Variations in new splicing regulatory elements are difficult to identify exclusively by sequence ins...
F each mutation within its exon, calculated as percentage of exon length. The lone spike around the ...
Source data computed by the Shannon pipeline and Veridical, displayed on the ValidSpliceMut (https:/...
The frequency distribution of mutation-induced aberrant 3' splice sites (3'ss) in exons and introns ...
We compiled sequences of previously published aberrant 3' splice sites (3'ss) that were generated by...
Interpretation of variants present in complete genomes or exomes reveals numerous sequence changes, ...
We present a major public resource of mRNA splicing mutations validated according to multiple lines ...
Non-coding mutations can create splice sites, however the true extent of how such somatic non-coding...
Despite a growing number of splicing mutations found in hereditary diseases, utilization of aberrant...
DBASS3 and DBASS5 provide comprehensive repositories of new exon boundaries that were induced by pat...
Despite a growing number of splicing mutations found in hereditary diseases, utilization of aberrant...
Ensus value (CV) method. Donor and acceptor sites are considered separately. The vertical dashed lin...
The interpretation of genomic variants has become one of the paramount challenges in the post-genome...
The interpretation of genomic variants has become one of the paramount challenges in the post-genome...
<p>(A) Bar graph representation of altered splicing events in case R08-269A. The number of events in...
Variations in new splicing regulatory elements are difficult to identify exclusively by sequence ins...
F each mutation within its exon, calculated as percentage of exon length. The lone spike around the ...