A Fully Automatic Registration and Analysis Platform for Next Generation Sequencing Data

Background: Clinical genetics plays a crucial role in the healthcare systems by providing valuableinformation for the investigation of genetic variations, prevention and diagnosis of genetic disorders, anddetermination of the best treatments for patients. Next Generation Sequencing (NGS) is a popular technologyfor sequencing patients’ whole exome. NGS is a rapid, high-throughput, and cost-effective approach forgenetic testing. Despite the growth of NGS utilization in clinical genetics, major challenges occur inregistration and analysis of the NGS data, such as dealing with the huge amount of data, the requirement ofhigh-level computational systems and programming skills, the variety of bioinformatics tools, and the lowquality of results visualization. Thus, further improvements in algorithms and pipelines are still essential.Results: We provide an online and totally automatic framework for the registration and analysis of NGS datato make this procedure simpler and easier. In this platform, five major goals are pursued. (۱) The presentedplatform is simple and fully automated; it reduces the need for human resources and the genetic database bydeveloping a user-friendly graphical interface. (۲) It achieves reliability and accuracy through performingstandard analysis, such as minimal pipeline, gene panels, incidental finding, and carrier screening analysis.(۳) Traceability and reproducibility are achieved by storing and reporting via a secure website, which couldbe practical for re-analyzing data. (۴) All outputs and results are graphically displayed. (۵) It makes shareableresults; details of all steps could be shared with collaborators or publications.Conclusion: Therefore, this automatic platform would enhance registration, analysis, visualization, andsharing of NGS data. It could improve the decision-making process of genetic disorder diagnosis andtreatment and could reach a new era in clinical genetics research. The platform is available athttps://www.SmartDXCloud.ir.

Keywords:

Automatic Platform , Pipeline , Genetic Variants , Next Generation Sequencing (NGS) , Whole-Exome Sequencing (WES) , Personalized Genomic Medicine , User-friendly Graphical Interface