[HTML][HTML] Opportunities and challenges in long-read sequencing data analysis

SL Amarasinghe, S Su, X Dong, L Zappia, ME Ritchie… - Genome biology, 2020 - Springer
Long-read technologies are overcoming early limitations in accuracy and throughput,
broadening their application domains in genomics. Dedicated analysis tools that take into …

[PDF][PDF] Alternative splicing regulatory networks: functions, mechanisms, and evolution

J Ule, BJ Blencowe - Molecular cell, 2019 - cell.com
High-throughput sequencing-based methods and their applications in the study of
transcriptomes have revolutionized our understanding of alternative splicing. Networks of …

[HTML][HTML] CADD-Splice—improving genome-wide variant effect prediction using deep learning-derived splice scores

P Rentzsch, M Schubach, J Shendure, M Kircher - Genome medicine, 2021 - Springer
Background Splicing of genomic exons into mRNAs is a critical prerequisite for the accurate
synthesis of human proteins. Genetic variants impacting splicing underlie a substantial …

[HTML][HTML] Genetic control of RNA splicing and its distinct role in complex trait variation

T Qi, Y Wu, H Fang, F Zhang, S Liu, J Zeng, J Yang - Nature genetics, 2022 - nature.com
Most genetic variants identified from genome-wide association studies (GWAS) in humans
are noncoding, indicating their role in gene regulation. Previous studies have shown …

[PDF][PDF] The polygenic and monogenic basis of blood traits and diseases

D Vuckovic, EL Bao, P Akbari, CA Lareau, A Mousas… - Cell, 2020 - cell.com
Blood cells play essential roles in human health, underpinning physiological processes
such as immunity, oxygen transport, and clotting, which when perturbed cause a significant …

[PDF][PDF] Full-length transcript sequencing of human and mouse cerebral cortex identifies widespread isoform diversity and alternative splicing

SK Leung, AR Jeffries, I Castanho, BT Jordan, K Moore… - Cell reports, 2021 - cell.com
Alternative splicing is a post-transcriptional regulatory mechanism producing distinct mRNA
molecules from a single pre-mRNA with a prominent role in the development and function of …

Transcriptome variation in human tissues revealed by long-read sequencing

DA Glinos, G Garborcauskas, P Hoffman, N Ehsan… - Nature, 2022 - nature.com
Regulation of transcript structure generates transcript diversity and plays an important role in
human disease,,,,,–. The advent of long-read sequencing technologies offers the opportunity …

IRIS: Discovery of cancer immunotherapy targets arising from pre-mRNA alternative splicing

Y Pan, JW Phillips, BD Zhang… - Proceedings of the …, 2023 - National Acad Sciences
Alternative splicing (AS) is prevalent in cancer, generating an extensive but largely
unexplored repertoire of novel immunotherapy targets. We describe I soform peptides from …

[HTML][HTML] isoCirc catalogs full-length circular RNA isoforms in human transcriptomes

R Xin, Y Gao, Y Gao, R Wang… - Nature …, 2021 - nature.com
Circular RNAs (circRNAs) have emerged as an important class of functional RNA molecules.
Short-read RNA sequencing (RNA-seq) is a widely used strategy to identify circRNAs …

[HTML][HTML] Cyclin-dependent kinases (CDK) and their role in diseases development–review

P Łukasik, M Załuski, I Gutowska - International journal of molecular …, 2021 - mdpi.com
Cyclin-dependent kinases (CDKs) are involved in many crucial processes, such as cell cycle
and transcription, as well as communication, metabolism, and apoptosis. The kinases are …