The Online Diagnosis System for sanger sequencing based genetic testing

摘要

Sanger sequencing based genetic testing has been well established for many genetic diseases. In these testings, DNA sequencers produce vast amounts of data that need to be interpreted by the clinicians within a short peiod of time. To achieve this goal, a bioinformatics platform that can automates this process is yet to be developed. To fulfill this gap, we developed Online Diagnosis System (ODS), which is implemented as a web server and supports the commonly used ABI trace file format generated from Sanger sequencing. ODS seamlessly integrates useful functions covering base calling, Small Nucleotide Variant (SNV) identification, and comprehensive SNV annotation. It also allows the clinicians to manually inspect the quality of the identified SNVs when generating the final report. ODS can therefore significantly reduce the data analysis time, allowing the completion of the genetic testing in a timely manner.