Genomedics: Whole exome analysis system for clinical studies

摘要

Whole exome sequencing (WES) is a widely used technique in both medical studies and clinical practice. However, a number of studies show that the results produced by different WES analysis pipelines are not always homogeneous. To this end, we propose a method (called Genomedics) using a consensus approach to expand the list of variants by combining results called from six separate pipelines with sensitive options. To evaluate the performance of the proposed method, Gemomedics was compared to seven existing methods when they were tested on two datasets and F1-score was used as an indicator of accuracy. The results showed that Genomedics has the highest score among seven methods. We also applied Genomedics to analyze whole exomes from Multiple Myeloma and Dravet syndrome patients and found interesting results. The results demonstrate the promising applications of Genomedics in clinical studies.