TY  - JOUR
A1  - Chen, Meng
A1  - Wei, Ran
A1  - Wei, Gang
A1  - Xu, Mingqing
A1  - Su, Zhixi
A1  - Zhao, Chen
A1  - Ni, Ting
T1  - Systematic evaluation of the effect of polyadenylation signal variants on the expression of disease-associated genes
Y1  - 2021/04/19 
JF  - Genome Research 
JO  - Genome Research 
DO  - 10.1101/gr.270256.120 
UR  - http://genome.cshlp.org/content/early/2021/04/16/gr.270256.120.abstract 
N2  - Single nucleotide variants (SNVs) within polyadenylation signals (PASs), a specific six-nucleotide sequence required for mRNA maturation, can impair RNA-level gene expression and cause human diseases. However, there is a lack of genome-wide investigation and systematic confirmation tools for identifying PAS variants. Here, we present a computational strategy to integrate the most reliable resources for discovering distinct genomic features of PAS variants and also develop a credible and convenient experimental tool to validate the effect of PAS variants on expression of disease-associated genes. This approach will greatly accelerate the deciphering of PAS variation-related human diseases. 
ER  -