Splicing and Junction Mapping

Numerous high-throughput sequencing studies focus on detecting conventionally spliced mRNAs in RNA-seq data. However, non-standard RNAs arising through gene fusion, circularization, or trans-splicing are often neglected. Researchers from the University Leipzig, Germany introduce a novel, unbiased algorithm to detect splice ...

Point mutations in intronic regions near mRNA splice junctions can affect the splicing process. To identify novel splicing variants from exome sequencing data, researchers at University of Milano–Bicocca, Italy developed a bioinformatics splice-site prediction procedure to analyze next-generation sequencing (NGS) ...

Several outlier and subgroup identification statistics (OASIS) have been proposed to discover transcriptomic features with outliers or multiple modes in expression that are indicative of distinct biological processes or subgroups. Here, researchers from the St. Jude Children’s Research Hospital, Memphis borrow ...

Alternative splicing is a major contributor to cellular diversity. Therefore the identification and quantification of differentially spliced transcripts in genome-wide transcript analysis is an important consideration. Here, JE Hooper reviews the software available for analysis of RNA-Seq data for differential ...

Chromosome rearrangements that result in gene fusions have important roles in the initial steps of tumorigenesis, especially in leukemias and lymphomas, but the biological and clinical impact of gene fusions in common solid tumors are less understood. Researchers at the ...