Systematic evaluation of the effect of polyadenylation signal variants on the expression of disease-associated genes. Chen, M., Wei, R., Ran Wei, Ran Wei, Wei, G., Wei, G., Xu, M., Su, Z., Zhao, C., & Ni, T. Genome Research, 31(5):890–899, April, 2021. MAG ID: 3152570246
doi  abstract   bibtex   
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.
@article{chen_systematic_2021,
	title = {Systematic evaluation of the effect of polyadenylation signal variants on the expression of disease-associated genes.},
	volume = {31},
	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.},
	number = {5},
	journal = {Genome Research},
	author = {Chen, Meng and Wei, Ran and {Ran Wei} and {Ran Wei} and Wei, Gang and Wei, Gang and Xu, Mingqing and Su, Zhixi and Zhao, Chen and Ni, Ting},
	month = apr,
	year = {2021},
	doi = {10.1101/gr.270256.120},
	pmid = {33875481},
	note = {MAG ID: 3152570246},
	pages = {890--899},
}

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