@article{Chen19042021,
author = {Chen, Meng and Wei, Ran and Wei, Gang and Xu, Mingqing and Su, Zhixi and Zhao, Chen and Ni, Ting}, 
title = {Systematic evaluation of the effect of polyadenylation signal variants on the expression of disease-associated genes},
year = {2021}, 
doi = {10.1101/gr.270256.120}, 
abstract ={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.}, 
URL = {http://genome.cshlp.org/content/early/2021/04/16/gr.270256.120.abstract}, 
eprint = {http://genome.cshlp.org/content/early/2021/04/16/gr.270256.120.full.pdf+html}, 
journal = {Genome Research} 
}