BGI to play a pivotal role in demonstrating the superior performance of RNA-Seq

BGI, the world's largest genomic organization, today announced its participation and pivotal role in demonstrating the superior performance of RNA-Seq in predicting patient outcomes as part of the Sequencing Quality Control (SEQC) Project launched by the U.S. Food and Drug Administration (FDA). The SEQC, also known as MAQC-III, is the third phase of the MicroArray Quality Control (MAQC), aimed at assessing the technical performance of next-generation sequencing (NGS) platforms for RNA and DNA analyses.

Microarrays were expected to be a primary source for pharmacogenomic and toxicogenomic data, but its progress has been hampered due to concerns on the lack of reproducibility and accuracy of the derived data. Recently, more and more scientists have been gradually conducting pharmaceutical and medical studies by utilizing NGS technology for advancing personalized nutrition and medicine. In late 2008, FDA turned its attention to sequencing technology and issued a statement calling for volunteers to participate in SEQC.

With the rapid development of NGS technology, RNA-Seq, also known as "Whole Transcriptome Shotgun Sequencing," is being adopted by the biomedical research community and FDA-regulated industries because of its potential for higher sensitivity in detecting low expression genes and greater specificity in distinguishing isoforms, among other advantages. To demonstrate the utility of RNA-Seq technology in predicting patient outcomes, the FDA, BGI and the University Children's Hospital of Cologne have been conducting together a study of cancer prognosis to assess the performance of RNA-Seq and microarrays using 500 neuroblastoma samples from MAQC-II.

In this project, BGI performs sequence library construction and sequencing as well as bioinformatics analysis for the massive amount of data being produced. "With our rich experience in RNA-Seq research, we believe we can make a significant contribution to the development of RNA-Seq technology and help accelerate its translation to clinical application," said Dr. Zhiyu Peng, Vice President of Research & Cooperation Division at BGI.

Dr. Matthias Fischer from the University Children's Hospital of Cologne stated, "While we have built predictive models for neuroblastoma patients with microarray data, some of those still need to be improved. Compared with microarray, the resulting massive RNA-Seq sequence data could be utilized to better understand human transcriptomics and identify functional genetic variants associated with disease and drug risks."

Provided by BGI Shenzhen