Other

Dataset Information

0

Massively Parallel Characterization and Prediction of Disease-Associated Branch Site Variants that Perturb RNA Splicing


ABSTRACT: It is estimated that 10-30% of disease-associated genetic variants affect splicing. Splicing variants may generate deleteriously altered gene product and are potential therapeutic targets. However, experimental diagnosis for splicing variants is time-consuming and reliable computational prediction tools have not been established, especially for the 3’ end of introns. The major challenge lies in the redundant and ill-defined branch site motif therein. Here, we carried out unbiased massively parallel splicing assays on 5,307 disease-associated variants overlapped with branch sites. We observed that 11.0% (455 out of 4,154 valid comparisons) of candidate variants showed a consistent pattern of altered splicing across four experimental replicates, among which 244 candidates (6.1%) presented more than two-fold changes in the use of noncanonical splice sites and these are named high-confidence (HC) significant candidates.

ORGANISM(S): Homo sapiens

PROVIDER: GSE179892 | GEO | 2022/05/10

REPOSITORIES: GEO

Dataset's files

Source:
Action DRS
Other
Items per page:
1 - 1 of 1

Similar Datasets

2022-12-19 | PXD035346 | Pride
2022-12-02 | GSE208181 | GEO
2016-08-01 | E-GEOD-68022 | biostudies-arrayexpress
2016-08-01 | GSE68022 | GEO
2014-03-18 | GSE50246 | GEO
2014-03-18 | E-GEOD-50246 | biostudies-arrayexpress
| PRJNA745470 | ENA
2015-07-30 | PXD001800 | Pride
2021-10-08 | GSE171002 | GEO
2019-12-28 | GSE142638 | GEO