[HTML][HTML] The role of alternative splicing in cancer: From oncogenesis to drug resistance

R Sciarrillo, A Wojtuszkiewicz, YG Assaraf… - Drug Resistance …, 2020 - Elsevier
Alternative splicing is a tightly regulated process whereby non-coding sequences of pre-
mRNA are removed and protein-coding segments are assembled in diverse combinations …

RNA splicing and cancer

E Wang, I Aifantis - Trends in cancer, 2020 - cell.com
RNA splicing is an essential process that governs many aspects of cellular proliferation,
survival, and differentiation. Considering the importance of RNA splicing in gene regulation …

Characterizing prostate cancer risk through multi-ancestry genome-wide discovery of 187 novel risk variants

A Wang, J Shen, AA Rodriguez, EJ Saunders, F Chen… - Nature …, 2023 - nature.com
The transferability and clinical value of genetic risk scores (GRSs) across populations
remain limited due to an imbalance in genetic studies across ancestrally diverse …

[HTML][HTML] Identification and analysis of splicing quantitative trait loci across multiple tissues in the human genome

D Garrido-Martín, B Borsari, M Calvo, F Reverter… - Nature …, 2021 - nature.com
Alternative splicing (AS) is a fundamental step in eukaryotic mRNA biogenesis. Here, we
develop an efficient and reproducible pipeline for the discovery of genetic variants that affect …

Alternative splicing and cancer: insights, opportunities, and challenges from an expanding view of the transcriptome

S Cherry, KW Lynch - Genes & Development, 2020 - genesdev.cshlp.org
Over the past decade there has been increased awareness of the potential role of
alternative splicing in the etiology of cancer. In particular, advances in RNA-Sequencing …

OncoSplicing: an updated database for clinically relevant alternative splicing in 33 human cancers

Y Zhang, X Yao, H Zhou, X Wu, J Tian… - Nucleic Acids …, 2022 - academic.oup.com
Alternative splicing (AS) represents a crucial method in mRNA level to regulate gene
expression and contributes to the protein complexity. Abnormal splicing has been reported …

Functional characterization of human genomic variation linked to polygenic diseases

T Fabo, P Khavari - Trends in Genetics, 2023 - cell.com
The burden of human disease lies predominantly in polygenic diseases. Since the early
2000s, genome-wide association studies (GWAS) have identified genetic variants and loci …

A comprehensive benchmarking of differential splicing tools for RNA-seq analysis at the event level

M Jiang, S Zhang, H Yin, Z Zhuo… - Briefings in …, 2023 - academic.oup.com
RNA alternative splicing, a post-transcriptional stage in eukaryotes, is crucial in cellular
homeostasis and disease processes. Due to the rapid development of the next-generation …

Risk SNP-Mediated Enhancer–Promoter Interaction Drives Colorectal Cancer through Both FADS2 and AP002754.2

J Tian, J Lou, Y Cai, M Rao, Z Lu, Y Zhu, D Zou, X Peng… - Cancer research, 2020 - AACR
Although genome-wide association studies (GWAS) have identified more than 100
colorectal cancer risk loci, most of the biological mechanisms associated with these loci …

[HTML][HTML] Genome-wide enhancer-gene regulatory maps link causal variants to target genes underlying human cancer risk

P Ying, C Chen, Z Lu, S Chen, M Zhang, Y Cai… - Nature …, 2023 - nature.com
Genome-wide association studies have identified numerous variants associated with human
complex traits, most of which reside in the non-coding regions, but biological mechanisms …