RNA-Seq has become the method of choice to quantify genes and exons, discover novel transcripts, and detect fusion genes. However, reliable variant identification from RNA-Seq data remains challenging due to the complexities of the transcriptome, the challenges of accurately mapping ...
Read More »sQTLseekeR – Identification of genetic variants associated with alternative splicing
Identification of genetic variants affecting splicing in RNA sequencing population studies is still in its infancy. Splicing phenotype is more complex than gene expression and ought to be treated as a multivariate phenotype to be recapitulated completely. Here a team ...
Read More »SLaP Mapper: a webserver for identifying and quantifying spliced-leader addition and polyadenylation site usage
The Kinetoplastida are a diverse and globally distributed class of free-living and parasitic single-celled eukaryotes that collectively cause a significant burden on human health and welfare. In kinetoplastids individual genes do not have promoters, but rather all genes are arranged ...
Read More »JAGuaR: Junction Alignments to Genome for RNA-Seq Reads
JAGuaR is an alignment protocol for RNA-seq reads that uses an extended reference to increase alignment sensitivity. It uses BWA to align reads to the genome and reference transcript models (including annotated exon-exon junctions) specifically allowing for the possibility of ...
Read More »SpliceNet: recovering splicing isoform-specific differential gene networks from RNA-Seq data of normal and diseased samples
Conventionally, overall gene expressions from microarrays are used to infer gene networks, but it is challenging to account splicing isoforms. High-throughput RNA Sequencing has made splice variant profiling practical. However, its true merit in quantifying splicing isoforms and isoform-specific exon ...
Read More »SigFuge – single gene clustering of RNA-seq reveals differential isoform
High-throughput sequencing technologies, including RNA-seq, have made it possible to move beyond gene expression analysis to study transcriptional events including alternative splicing and gene fusions. Furthermore, recent studies in cancer have suggested the importance of identifying transcriptionally altered loci as ...
Read More »Emerging computational approaches that integrate RNA-seq data for predicting the functions of alternatively spliced isoforms
The vast majority of multi-exon genes in humans undergo alternative splicing, which greatly increases the functional diversity of protein species. Predicting functions at the isoform level is essential to further our understanding of developmental abnormalities and cancers, which frequently exhibit ...
Read More »KisSplice – de novo Assembly of Alternative Splicing Events from RNA-seq Data
Gustavo Sacomoto In this thesis, we address the problem of identifying and quantifying variants (alternative splicing and genomic polymorphism) in RNA-seq data when no reference genome is available, without assembling the full transcripts. Based on the fundamental idea that each ...
Read More »ARH-seq – identification of differential splicing in RNA-seq data
The computational prediction of alternative splicing from high-throughput sequencing data is inherently difficult and necessitates robust statistical measures because the differential splicing signal is overlaid by influencing factors such as gene expression differences and simultaneous expression of multiple isoforms amongst ...
Read More »FlipFlop – Efficient RNA Isoform Identification and Quantification from RNA-Seq Data with Network Flows
Several state-of-the-art methods for isoform identification and quantification are based on l1-regularized regression, such as the Lasso. However, explicitly listing the-possibly exponentially-large set of candidate transcripts is intractable for genes with many exons. For this reason, existing approaches using the ...
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