RNA splicing by the spliceosome

ME Wilkinson, C Charenton… - Annual review of …, 2020 - annualreviews.org
The spliceosome removes introns from messenger RNA precursors (pre-mRNA). Decades
of biochemistry and genetics combined with recent structural studies of the spliceosome …

Lessons from non-canonical splicing

CR Sibley, L Blazquez, J Ule - Nature Reviews Genetics, 2016 - nature.com
Recent improvements in experimental and computational techniques that are used to study
the transcriptome have enabled an unprecedented view of RNA processing, revealing many …

Protein-to-genome alignment with miniprot

H Li - Bioinformatics, 2023 - academic.oup.com
Motivation Protein-to-genome alignment is critical to annotating genes in non-model
organisms. While there are a few tools for this purpose, all of them were developed over 10 …

Nanopore direct RNA sequencing maps the complexity of Arabidopsis mRNA processing and m6A modification

MT Parker, K Knop, AV Sherwood, NJ Schurch… - Elife, 2020 - elifesciences.org
Understanding genome organization and gene regulation requires insight into RNA
transcription, processing and modification. We adapted nanopore direct RNA sequencing to …

Genome-wide analyses identify KIF5A as a novel ALS gene

A Nicolas, KP Kenna, AE Renton, N Ticozzi, F Faghri… - Neuron, 2018 - cell.com
To identify novel genes associated with ALS, we undertook two lines of investigation. We
carried out a genome-wide association study comparing 20,806 ALS cases and 59,804 …

[HTML][HTML] Synonymous mutations frequently act as driver mutations in human cancers

F Supek, B Miñana, J Valcárcel, T Gabaldón, B Lehner - Cell, 2014 - cell.com
Synonymous mutations change the sequence of a gene without directly altering the
sequence of the encoded protein. Here, we present evidence that these" silent" mutations …

Transcriptome survey reveals increased complexity of the alternative splicing landscape in Arabidopsis

Y Marquez, JWS Brown, C Simpson, A Barta… - Genome …, 2012 - genome.cshlp.org
Alternative splicing (AS) is a key regulatory mechanism that contributes to transcriptome and
proteome diversity. As very few genome-wide studies analyzing AS in plants are available …

De novo assembly and analysis of RNA-seq data

G Robertson, J Schein, R Chiu, R Corbett, M Field… - Nature …, 2010 - nature.com
Abstract We describe Trans-ABySS, a de novo short-read transcriptome assembly and
analysis pipeline that addresses variation in local read densities by assembling read …

Minor intron retention drives clonal hematopoietic disorders and diverse cancer predisposition

D Inoue, JT Polaski, J Taylor, P Castel, S Chen… - Nature …, 2021 - nature.com
Most eukaryotes harbor two distinct pre-mRNA splicing machineries: the major spliceosome,
which removes> 99% of introns, and the minor spliceosome, which removes rare …

A high quality Arabidopsis transcriptome for accurate transcript-level analysis of alternative splicing

R Zhang, CPG Calixto, Y Marquez… - Nucleic acids …, 2017 - academic.oup.com
Alternative splicing generates multiple transcript and protein isoforms from the same gene
and thus is important in gene expression regulation. To date, RNA-sequencing (RNA-seq) is …