This tutorial provides an overview of the Isoform Sequencing (Iso-Seq) analysis application. The Iso-Seq application provides reads that span entire transcript isoforms, from the 5′ end to the 3′ polyA-tail. Generation of accurate, full-length transcript sequences greatly simplifies analysis by eliminating the need for transcript reconstruction to infer isoforms using error-prone assembly of short RNA-seq reads.
A team of scientists has published one of the most detailed explorations to date of complex structural variation in a human genome. The results highlight just how much genomic variation is missed when working exclusively with short-read sequencing technologies.
Pacific Biosciences is making advances in the targeted sequencing space, including a partnership with Roche NimbleGen.
The approach should allow “haplotype phas[ing] and assembly of complex regions even in genomic regions containing complex repeats or PCR-challenged sequences that limit the performance of other synthetic long read approaches based on short read sequencing technologies”.
These solutions will combine the power of RainDance’s proprietary digital droplet technology and single-molecule barcoding capabilities with Pacific Biosciences’ proprietary long-range DNA amplification technology to provide sample preparation upstream of PacBio’s long-read sequencing system.
Researchers from Baylor College of Medicine reported in BMC Genomics how they employed multiple sequencing technologies, library preparations, assembly methods, and genome mapping tools to work toward creating a reference diploid genome long read data from PacBio was especially important.
In case you’re not aware, the human genome is not completely sequenced. Regions of repeats and hard to decode sequence continue to elude scientists. And then there is the challenge of genetic variation. Nathan Blow looks at new technologies and methods that could help map these and other difficult-to-read stretches of DNA.
Genome editing researchers based at Stanford and Emory Universities have developed a method for tracking the outcome of editing experiments using SMRT Sequencing.
Review of recent paper published in Cell Reports, demonstrating the advantages of SMRT Sequencing for DNA editing.