This on-demand webinar, recorded Sept. 29, 2014, details the results of the first phase of an ongoing study on next-generation sequencing (NGS) technologies being conducted by the Association of Biomolecular Resource Facilities’ (ABRF) Research Groups.
The goal of this study was to evaluate the performance of six next-generation sequencing platforms, including the Illumina HiSeq 2000/2500, Illumina MiSeq, Life Technologies Ion Torrent PGM, Life Technologies Ion Torrent Proton, Roche 454 GS FLX, and Pacific Biosciences (PacBio) RS.
The first phase of the study focused on transcriptome analysis and involved more than 20 core facility laboratories who used standard reference samples from the Microarray Quality Control Consortium to perform replicate RNA‐seq experiments on these platforms. A paper
describing the results of this phase of the study was recently published in Nature Biotechnology
The results from this phase of the study showed high intra‐platform consistency and inter‐platform concordance for expression measures, but also demonstrated highly variable rates of efficiency and costs for splice isoform detection between platforms. A comparison of alternative aligners for each platform was performed, which showed that algorithm choice affects mapping rates and transcript coverage more than gene quantification.
The speakers also provide an overview of the next phase of the ABRF NGS Study, which will focus on DNA reference standards, and will be done in close collaboration with the NIST Genome in a Bottle (GIAB) Consortium. They discuss the study's goal of establishing a community resource that will facilitate self-evaluation and improvement of NGS performance data as instruments and protocols change.
• Christopher Mason, Weill Cornell Medical College, ABRF Genomics Bioinformatics Research Group
• George Grills, Cornell University, ABRF Executive Board
• Don Baldwin, Pathonomics LLC, ABRF Genomics Research Group
• Scott Tighe, University of Vermont, ABRF Metagenomics Research Group
• Sheng Li, Weill Cornell Medical College, ABRF Genomics Bioinformatics Research Group
• Marc Salit, National Institute of Standards and Technology
Register here to download or view the recording