RT Journal
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
JF Genome Research 
JO Genome Research 
YR 2021 
FD April 19 
DO 10.1101/gr.270256.120 
UL http://genome.cshlp.org/content/early/2021/04/16/gr.270256.120.abstract 
AB 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.