At last week’s Molecular Medicine Tri-Conference, Birgit Funke, Director of Clinical Research and Development at the Laboratory for Molecular Medicine and Lab Director at Partners HealthCare, presented in the session “Can Exomes Replace Targeted Panels? Balancing Cost with Results and Regulatory Requirements”. Given her intriguing talk title, “Using Exome Sequencing as a Universal Assay to Streamline Assay Development and Laboratory Operations”, I sat down with the goal of hearing about how exomes may be at the point to replace disease-focused panels. Certainly, one can imagine how doing so could simplify the clinical lab workflow by converging from many tests to a single one.
We are all familiar with the end-to-end NGS workflow, starting with sample preparation, followed by sequencing, bioinformatics and interpretation. While at Bina we are largely focused on informatics, the analysis and insight that we gather from sequencing data are only as good as the samples going in. Formalin-fixed, paraffin-embedded (FFPE) tissue samples are pertinent in the clinical and translational oncology setting. However, nucleic acids extracted from FFPE samples are often fragmented, in low yield, and chemically modified, making them difficult to use in genetic and next- generation sequencing studies.
We are on the road again!
Join us next week at the Molecular Medicine Tri-Conference in San Francisco, CA, where big data scientists, bioinformaticians and IT professionals come together to explore ways to analyze and manage genomic data in the Informatics Channel. Come test drive Bina’s secondary and tertiary analysis software at booth #215 from Monday March 7 to Wednesday March 9, and have a conversation with us about your genomic data challenges.