Special Issue "Next-Generation Sequencing in the Differential Diagnosis of Disease"

A special issue of Journal of Personalized Medicine (ISSN 2075-4426). This special issue belongs to the section "Methodology, Drug and Device Discovery".

Deadline for manuscript submissions: closed (1 November 2023) | Viewed by 194

Special Issue Editor

Dr. Ronald Moura
E-Mail Website
Guest Editor
Department of Advanced Diagnostics, Institute for Maternal and Child Health-IRCCS "Burlo Garofolo", 34137 Trieste, Italy
Interests: human genetics; bioinformatics
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,

The decreasing costs of next-generation sequencing (NGS) are this technology accessible to a large part of the scientific community. The amount of crescent sequences generated by NGS has made it possible to study the genetic mechanisms underlying the causes and prognostics of different types of diseases. Moreover, since they are becoming more precise and cost-effective, NGS techniques are now finding widespread application in diagnostics, as well as therapeutic and monitoring choices, gradually replacing other methods.

This Special Issue aims to publish articles on the topics related to the usage of various NGS methods applied to differential diagnostics in cases like rare genetic disorders, cancers and infectious diseases.

We welcome scholars to submit the following varieties of study: original research articles using different study designs; critical reviews regarding the different aspects of NGS on clinical diagnosis, including systematic reviews; and innovative methodological papers, including Bioinformatic pipelines.

Dr. Ronald Moura
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. Journal of Personalized Medicine 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 2600 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.


  • rare diseases
  • genetic biomarkers
  • oncogenetics
  • omics

Published Papers

There is no accepted submissions to this special issue at this moment.
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