Impact of Rare Non-coding Variants on Human Diseases through Alternative Polyadenylation Outliers
L Li, X Zou, Z Zhao, Y Chen, K Xiong, Z Wang, S Chen… - 2024 - researchsquare.com
Although rare non-coding variants (RVs) play crucial roles in human complex traits and
diseases, understanding their functional mechanisms and identifying those most closely …
diseases, understanding their functional mechanisms and identifying those most closely …
Alternative polyadenylation-associated loci interpret human traits and diseases
Z Fang, S Li - Trends in Genetics, 2021 - cell.com
Alternative polyadenylation (APA)-associated genetic variants have been proposed to
impact diverse human phenotypes and disorders. In a recent study, Li et al. established a …
impact diverse human phenotypes and disorders. In a recent study, Li et al. established a …
Population‐scale genetic control of alternative polyadenylation and its association with human diseases
Background Genome‐wide association studies (GWAS) have identified thousands of
genomic non‐coding variants statistically associated with many human traits and diseases …
genomic non‐coding variants statistically associated with many human traits and diseases …
Genetic basis of alternative polyadenylation is an emerging molecular phenotype for human traits and diseases
Genome-wide association studies have identified thousands of non-coding variants that are
statistically associated with human traits and diseases. However, functional interpretation of …
statistically associated with human traits and diseases. However, functional interpretation of …
ipaQTL-atlas: an atlas of intronic polyadenylation quantitative trait loci across human tissues
Functional interpretation of disease-associated non-coding variants remains a significant
challenge in the post-GWAS era. Our recent study has identified 3′ UTR alternative …
challenge in the post-GWAS era. Our recent study has identified 3′ UTR alternative …
An atlas of alternative polyadenylation quantitative trait loci contributing to complex trait and disease heritability
Genome-wide association studies have identified thousands of noncoding variants
associated with human traits and diseases. However, the functional interpretation of these …
associated with human traits and diseases. However, the functional interpretation of these …
Large-scale alternative polyadenylation (APA)-wide association studies to identify putative susceptibility genes in human common cancers
Alternative polyadenylation (APA) modulates mRNA processing in the 3 untranslated
regions (3UTR), which affect mRNA stability and translation efficiency. Here, we build …
regions (3UTR), which affect mRNA stability and translation efficiency. Here, we build …
Systematic evaluation of the effect of polyadenylation signal variants on the expression of disease-associated genes
Single nucleotide variants (SNVs) within polyadenylation signals (PASs), a specific six-
nucleotide sequence required for mRNA maturation, can impair RNA-level gene expression …
nucleotide sequence required for mRNA maturation, can impair RNA-level gene expression …
[HTML][HTML] Alternative polyadenylation patterns for novel gene discovery and classification in cancer
Certain aspects of diagnosis, prognosis, and treatment of cancer patients are still important
challenges to be addressed. Therefore, we propose a pipeline to uncover patterns of …
challenges to be addressed. Therefore, we propose a pipeline to uncover patterns of …
3′ aQTL-atlas: an atlas of 3′ UTR alternative polyadenylation quantitative trait loci across human normal tissues
Genome-wide association studies (GWAS) have identified thousands of non-coding single-
nucleotide polymorphisms (SNPs) associated with human traits and diseases. However …
nucleotide polymorphisms (SNPs) associated with human traits and diseases. However …