L-RAPiT: Long Read Analysis Pipeline for Transcriptomics is an easy-to-use publicly available pipeline which allows for analysis of long read RNA-sequencing data within a cloud environment; namely, Google Colaboratory. L-RAPiT is available at the following address: https://github.com/Theo-Nelson/long-read-sequencing-pipeline Citation: Nelson, T.M.; ...
Read More »CIAlign – a highly customisable command line tool to clean, interpret and visualise multiple sequence alignments
Many applications of multiple sequence alignments (MSA) involve working with sequences which are not ideal – they can be incomplete, contain errors or just be highly divergent with many mismatches. This is very common when working with high throughput sequencing ...
Read More »Methodologies for transcript profiling using long-read technologies
RNA sequencing using next-generation sequencing technologies (NGS) is currently the standard approach for gene expression profiling, particularly for large-scale high-throughput studies. NGS technologies comprise high throughput, cost efficient...
Read More »Improved structural variant interpretation for hereditary cancer susceptibility using long-read sequencing
Structural variants (SVs) may be an underestimated cause of hereditary cancer syndromes given the current limitations of short-read next-generation sequencing. Here researchers from the University of...
Read More »Template-switching artifacts resemble alternative polyadenylation
Alternative polyadenylation is commonly examined using cDNA sequencing, which is known to be affected by template-switching artifacts. However, the effects of such template-switching artifacts on alternative polyadenylation are generally disregarded, while alternative polyadenylation artifacts are attributed to internal priming. Researchers ...
Read More »PacBio announces the release of Sequel System 6.0, including new software, consumable reagents and a new SMRT Cell
Significant Enhancements to Sequel System Enable >99% Accuracy for Single-Molecule Reads up to 15 kb; Throughput Increases by 2- to 4-Fold Pacific Biosciences of California, Inc. a provider of high-quality sequencing of genomes, transcriptomes and epigenomes, today announced major enhancements ...
Read More »Improved DNA/RNA sequencing methods reveal complex rearrangement in breast cancer cell’s genome
In cancer cells, genetic errors wreak havoc. Misspelled genes, as well as structural variations—larger-scale rearrangements of DNA that can encompass large chunks of chromosomes—disturb carefully balanced mechanisms that have evolved to regulate cell growth. Genes that are normally silent are...
Read More »