title: Mobile Genome Express (MGE): A comprehensive automatic genetic analyses pipeline with a mobile device.
abstract: The development of next-generation sequencing (NGS) technology allows to sequence whole exomes or genome. However, data analysis is still the biggest bottleneck for its wide implementation. Most laboratories still depend on manual procedures for data handling and analyses, which translates into a delay and decreased efficiency in the delivery of NGS results to doctors and patients. Thus, there is high demand for developing an automatic and an easy-to-use NGS data analyses system. We developed comprehensive, automatic genetic analyses controller named Mobile Genome Express (MGE) that works in smartphones or other mobile devices. MGE can handle all the steps for genetic analyses, such as: sample information submission, sequencing run quality check from the sequencer, secured data transfer and results review. We sequenced an Actrometrix control DNA containing multiple proven human mutations using a targeted sequencing panel, and the whole analysis was managed by MGE, and its data reviewing program called ELECTRO. All steps were processed automatically except for the final sequencing review procedure with ELECTRO to confirm mutations. The data analysis process was completed within several hours. We confirmed the mutations that we have identified were consistent with our previous results obtained by using multi-step, manual pipelines.
authors.affiliation: Thoracic Oncology Laboratory, Department of Surgery, University of California San Francisco, San Francisco, California, United States of America.|Comprehensive Cancer Center, University of California San Francisco, San Francisco, California, United States of America.
authors.forename: Jun-Hee
authors.initials: JH
authors.lastname: Yoon
authors.affiliation: CureSeq Inc., Brisbane, California, United States of America.
authors.forename: Thomas W
authors.initials: TW
authors.lastname: Kim
authors.affiliation: Thoracic Oncology Laboratory, Department of Surgery, University of California San Francisco, San Francisco, California, United States of America.|Comprehensive Cancer Center, University of California San Francisco, San Francisco, California, United States of America.
authors.forename: Pedro
authors.initials: P
authors.lastname: Mendez
authors.affiliation: Thoracic Oncology Laboratory, Department of Surgery, University of California San Francisco, San Francisco, California, United States of America.|Comprehensive Cancer Center, University of California San Francisco, San Francisco, California, United States of America.
authors.forename: David M
authors.initials: DM
authors.lastname: Jablons
authors.affiliation: Thoracic Oncology Laboratory, Department of Surgery, University of California San Francisco, San Francisco, California, United States of America.|Comprehensive Cancer Center, University of California San Francisco, San Francisco, California, United States of America.
authors.forename: Il-Jin
authors.identifier: http://orcid.org/0000-0002-8403-0439
authors.initials: IJ
authors.lastname: Kim
mesh_terms: D019295:Computational Biology; D034201:Computers, Handheld; D004252:DNA Mutational Analysis; D059014:High-Throughput Nucleotide Sequencing; D006801:Humans; D012984:Software