[HTML][HTML] Opportunities and challenges in long-read sequencing data analysis
Long-read technologies are overcoming early limitations in accuracy and throughput,
broadening their application domains in genomics. Dedicated analysis tools that take into …
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 …
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
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 …
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
Most genetic variants identified from genome-wide association studies (GWAS) in humans
are noncoding, indicating their role in gene regulation. Previous studies have shown …
are noncoding, indicating their role in gene regulation. Previous studies have shown …
[PDF][PDF] The polygenic and monogenic basis of blood traits and diseases
Blood cells play essential roles in human health, underpinning physiological processes
such as immunity, oxygen transport, and clotting, which when perturbed cause a significant …
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 …
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 …
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 …
unexplored repertoire of novel immunotherapy targets. We describe I soform peptides from …
[HTML][HTML] isoCirc catalogs full-length circular RNA isoforms in human transcriptomes
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 …
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 …
and transcription, as well as communication, metabolism, and apoptosis. The kinases are …