Aberrant RNA splicing in cancer; expression changes and driver mutations of splicing factor genes

A Sveen, S Kilpinen, A Ruusulehto, RA Lothe… - Oncogene, 2016 - nature.com
Alternative splicing is a widespread process contributing to structural transcript variation and
proteome diversity. In cancer, the splicing process is commonly disrupted, resulting in both …

Molecular mechanisms of eukaryotic pre-mRNA 3′ end processing regulation

S Millevoi, S Vagner - Nucleic acids research, 2010 - academic.oup.com
ABSTRACT Messenger RNA (mRNA) 3′ end formation is a nuclear process through which
all eukaryotic primary transcripts are endonucleolytically cleaved and most of them acquire a …

MapSplice: accurate mapping of RNA-seq reads for splice junction discovery

K Wang, D Singh, Z Zeng, SJ Coleman… - Nucleic acids …, 2010 - academic.oup.com
The accurate mapping of reads that span splice junctions is a critical component of all
analytic techniques that work with RNA-seq data. We introduce a second generation splice …

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 …

Methylomic trajectories across human fetal brain development

H Spiers, E Hannon, LC Schalkwyk, R Smith… - Genome …, 2015 - genome.cshlp.org
Epigenetic processes play a key role in orchestrating transcriptional regulation during
development. The importance of DNA methylation in fetal brain development is highlighted …

Identification and systematic annotation of tissue-specific differentially methylated regions using the Illumina 450k array

RC Slieker, SD Bos, JJ Goeman, JVMG Bovée… - Epigenetics & …, 2013 - Springer
Background DNA methylation has been recognized as a key mechanism in cell
differentiation. Various studies have compared tissues to characterize epigenetically …

A multi-split mapping algorithm for circular RNA, splicing, trans-splicing and fusion detection

S Hoffmann, C Otto, G Doose, A Tanzer… - Genome biology, 2014 - Springer
Numerous high-throughput sequencing studies have focused on detecting conventionally
spliced mRNAs in RNA-seq data. However, non-standard RNAs arising through gene …

Ensembl's 10th year

P Flicek, BL Aken, B Ballester, K Beal… - Nucleic acids …, 2010 - academic.oup.com
ABSTRACT Ensembl (http://www. ensembl. org) integrates genomic information for a
comprehensive set of chordate genomes with a particular focus on resources for human …

miRTar: an integrated system for identifying miRNA-target interactions in human

JBK Hsu, CM Chiu, SD Hsu, WY Huang, CH Chien… - BMC …, 2011 - Springer
Background MicroRNAs (miRNAs) are small non-coding RNA molecules that are~ 22-nt-
long sequences capable of suppressing protein synthesis. Previous research has suggested …

Heart failure–associated changes in RNA splicing of sarcomere genes

SW Kong, YW Hu, JWK Ho, S Ikeda… - Circulation …, 2010 - Am Heart Assoc
Background—Alternative mRNA splicing is an important mechanism for regulation of gene
expression. Altered mRNA splicing occurs in association with several types of cancer, and a …