Clinical Applications of High-Throughput Sequencing in Infectious Disease Diagnostics

Dear Colleagues,

Since its introduction in 2005, high-throughput sequencing (HTS), also called next-generation sequencing or massively parallel sequencing, has rapidly become an accessible and affordable technology in many research and public health laboratories. The benefits of HTS include whole genome sequencing, pathogen discovery, and outbreak and molecular epidemiology investigations. In combination with bioinformatics, through simultaneous identification of pathogens and genes encoding virulence or antimicrobial resistance in clinical samples from patients, as well as individual host responses to infection, HTS holds the promise of revolutionizing diagnostics of infectious diseases in clinical laboratories. While this potential was recognized early on, implementing HTS technology in the routine toolkit of clinicians and clinical microbiologists remains challenging. Whether using targeted amplicon sequencing or shotgun metagenomics, all steps involved in HTS data generation from wet-lab (i.e., sample processing steps) and dry-lab (i.e., the data analysis performed using a bioinformatics pipeline) can lead to spurious findings or introduce bias into the final results and significantly affect correlations, clinical reporting, and interpretation.

We encourage you to submit manuscripts (original research articles, perspective papers, and reviews) that advance the practicing infectious disease physicians’ and clinical microbiologists’ understanding of the positioning, potential, and pitfalls of HTS technology in Infectious Disease diagnostics. Topics covered in this Special Issue will include method standardization, validation and reproducibility of results, analytical and clinical sensitivity of HTS methods, regulatory issues, and ethical and practical considerations in pipeline development. Submissions should place a clear emphasis on the interpretation and clinical reporting of HTS data applied to the identification or discovery of pathogens, virulence, and resistance markers.

Dr. Ralph Huits
Guest Editor

Manuscript Submission Information

Manuscripts should be submitted online at www.mdpi.com by registering and logging in to this website. Once you are registered, click here to go to the submission form. Manuscripts can be submitted until the deadline. All submissions that pass pre-check are peer-reviewed. Accepted papers will be published continuously in the journal (as soon as accepted) and will be listed together on the special issue website. Research articles, review articles as well as short communications are invited. For planned papers, a title and short abstract (about 100 words) can be sent to the Editorial Office for announcement on this website.

Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). All manuscripts are thoroughly refereed through a single-blind peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. Tropical Medicine and Infectious Disease is an international peer-reviewed open access monthly journal published by MDPI.

Please visit the Instructions for Authors page before submitting a manuscript. The Article Processing Charge (APC) for publication in this open access journal is 2700 CHF (Swiss Francs). Submitted papers should be well formatted and use good English. Authors may use MDPI's English editing service prior to publication or during author revisions.

• high-throughput sequencing
• next-generation sequencing
• diagnostics
• analytical and clinical sensitivity
• bioinformatics
• pathogen discovery
• resistance markers
• virulence markers
• unbiased sequencing
• targeted amplicon sequencing