RNA sequencing (RNA-seq) and microarrays are two transcriptomics techniques aimed at the quantification of transcribed genes and their isoforms. Here researchers from the Luxembourg Institute of Health compare the latest Affymetrix HTA 2.0 microarray with Illumina 2000 RNA-seq for the ...
Read More »ChimeRScope – a novel alignment-free algorithm for fusion transcript prediction using paired-end RNA-Seq data
The RNA-Seq technology has revolutionized transcriptome characterization not only by accurately quantifying gene expression, but also by the identification of novel transcripts like chimeric fusion transcripts. The ‘fusion’ or ‘chimeric’ transcripts have improved the diagnosis and prognosis of several tumors, ...
Read More »Evaluation of tools for long read RNA-seq splice-aware alignment
High-throughput sequencing has transformed the study of gene expression levels through RNA-seq, a technique that is now routinely used by various fields, such as genetic research or diagnostics. The advent of third generation sequencing technologies providing significantly longer reads opens ...
Read More »Researchers identify first familially-inherited fusion gene based on RNA-seq data
SplicingCodes.com’s scientists, in collaboration with colleagues from USA and China, have identified the KANSARL fusion gene as the first familially-inherited cancer susceptible fusion gene specific to the population of European ancestry origin. The KANSARL fusion gene is also the cancer ...
Read More »DRIMSeq – a Dirichlet-multinomial framework for multivariate count outcomes in genomics
There are many instances in genomics data analyses where measurements are made on a multivariate response. For example, alternative splicing can lead to multiple expressed isoforms from the same primary transcript. There are situations where the total abundance of gene ...
Read More »Its time to update incomplete annotations to include splicing
Gene annotations, such as those in GENCODE, are derived primarily from alignments of spliced cDNA sequences and protein sequences. The impact of RNA-seq data on annotation has been confined to major projects like ENCODE and Illumina Body Map 2.0. Researchers ...
Read More »Workflow for Genome-Wide Determination of Pre-mRNA Splicing Efficiency from Yeast RNA-seq Data
Pre-mRNA splicing represents an important regulatory layer of eukaryotic gene expression. In the simple budding yeast Saccharomyces cerevisiae, about one-third of all mRNA molecules undergo splicing, and splicing efficiency is tightly regulated, for example, during meiotic differentiation. S. cerevisiae features ...
Read More »Methods for measuring splicing and transcription rates in living cells
An important step toward understanding gene regulation is the elucidation of the time necessary for the completion of individual steps. Measurement of reaction rates can reveal potential nodes for regulation. For example, measurements of in vivo transcription elongation rates reveal ...
Read More »ChimPipe – Accurate detection of fusion genes and transcription-induced chimeras from RNA-seq data
Chimeric transcripts are commonly defined as transcripts linking two or more different genes in the genome, and can be explained by various biological mechanisms such as genomic rearrangement, read-through or trans-splicing, but also by technical or biological artefacts. Several studies ...
Read More »FUCHS – Towards full circular RNA characterization using RNAseq
Circular RNAs (circRNAs) belong to a recently re-discovered species of RNA that emerge during RNA maturation through a process called back-splicing. A downstream 5’ splice site is linked to an upstream 3’ splice site to form a circular transcript instead ...
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