Towards Best Practices in Cancer Mutation Detection with Whole-genome and Whole-exome Sequencing

This month’s Cancer Genomics Cloud (CGC) webinar welcomes Dr. Wenming Xiao, a lead bioinformatics scientist at the U.S. Food and Drug Administration. Dr. Xiao specializes in researching how computational, technical, and biological factors affect the reproducibility and accuracy of samples in whole-genome and whole-exome sequencing.

Clinical applications of precision oncology require accurate tests that can distinguish true cancer-specific mutations from errors. However, no bulk sequencing study has yet addressed the effects of cross-site reproducibility or the factors that influence variant identification.

During the webinar, Dr. Xiao will share how he evaluated the reproducibility of different sample types with varying input amount and tumor purity, multiple library construction protocols, followed by processing with nine bioinformatics pipelines through whole-genome and whole-exome sequencing. From his findings, he can recommend actionable practices to improve the reproducibility and accuracy of next generation sequencing experiments for cancer mutation detection.

As one of NCI’s Cloud Resources, the Seven Bridges’ CGC provides researchers access to a wide variety of data sets, a catalog of tools to analyze and visualize the data directly from the browser, and scalable computational resources to perform large scale analysis on the cloud.