1st International and 10th National Iranian Conference on Bioinformatics
Home Accepted Papers
A Fully Automatic Registration and Analysis Platform for Next Generation Sequencing Data
Paper ID : 1101-ICB10
Authors:
Toktam Dehghani *1, Reza Jafarzadeh Esfehani2, Maliheh Alimardani3, Maryam Gholizadeh1, Ariane Sadr-Nabavi3, Mohammad Reza Abbaszadegan3, Saeid Eslami1
1Department of Medical Informatics, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran.
2Medical Genetics Research Center, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran.
3Department of Medical Genetics and Molecular Medicine, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran.
Abstract:
Background: Clinical genetics plays a crucial role in the healthcare systems by providing valuable information for the investigation of genetic variations, prevention and diagnosis of genetic disorders, and determination of the best treatments for patients. Next Generation Sequencing (NGS) is a popular technology for sequencing patients’ whole exome. NGS is a rapid, high-throughput, and cost-effective approach for genetic testing. Despite the growth of NGS utilization in clinical genetics, major challenges occur in registration and analysis of the NGS data, such as dealing with the huge amount of data, the requirement of high-level computational systems and programming skills, the variety of bioinformatics tools, and the low quality 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 data to make this procedure simpler and easier. In this platform, five major goals are pursued. (1) The presented platform is simple and fully automated; it reduces the need for human resources and the genetic database by developing a user-friendly graphical interface. (2) It achieves reliability and accuracy through performing standard analysis, such as minimal pipeline, gene panels, incidental finding, and carrier screening analysis. (3) Traceability and reproducibility are achieved by storing and reporting via a secure website, which could be practical for re-analyzing data. (4) All outputs and results are graphically displayed. (5) It makes shareable results; details of all steps could be shared with collaborators or publications.
Conclusion: Therefore, this automatic platform would enhance registration, analysis, visualization, and sharing of NGS data. It could improve the decision-making process of genetic disorder diagnosis and treatment and could reach a new era in clinical genetics research. The platform is available at https://www.SmartDXCloud.ir.
Keywords:
Automatic Platform, Pipeline, Genetic Variants, Next Generation Sequencing (NGS), Whole-Exome Sequencing (WES), Personalized Genomic Medicine, User-friendly Graphical Interface.
Status : Paper Accepted (Poster Presentation)