Abstract

Diagpipe: An Ultra-Fast NGS Analysis Pipeline to Help Rapid Diagnosis and Clinical Interpretation

Adam Yao, Research Scientist, Academia Sinica

Next-generation sequencing (NGS) is becoming the main technology for molecular diagnosis in clinical laboratories. However, a single exome can result in approximately 10 Gigabytes of data and sequencing a single genome can result in approximately 200 Gigabytes. As a result, bioinformatics easily becomes the single largest bottleneck in the routine implementation of next generation sequencing in clinical practice. Diagpipe with optimized design and implementation enables rapid diagnosis of rare disease so that an adequate course of management and treatment can be applied within days if not hours and therefore reduces the medical cost and potentially saves lives.