Multi-Omics for Diagnosing Diseases: Bioinformatics Approaches and Integrative Data Analyses

Dear Colleagues,

The study and diagnosis of many human diseases are often difficult due to a number of factors. Diseases have diverse causes, such as, for instance, interactions with the environment, food habits, the microbiome, and/or genetics. Specifically, in this latter case, we are chiefly concerned with hereditary genetics, in particular with the identification of the causes that induce the symptoms presented by the patients. Here, the physician often requires the collection of samples, something that will allow the performance of the genetics diagnosis. These samples often undergo the process of sequencing (i.e., whole-exome sequencing (WES)), which enables the detection of deleterious genetic changes and other variation found in the protein-coding regions of the human genome. However, the genetic causes may also be located outside of the coding regions, i.e., in noncoding DNA, which comprises more than 90% of the human genome. Here, whole-genome sequencing (WGS) methods become necessary. Additionally, GWAS, epigenomics, transcriptomics, and other omics can reveal themselves to be useful in the study and molecular diagnosis of human diseases.

Moreover, several bioinformatics advances have enabled the analysis of data originating from these sequencing technologies and often benefit from tools and methods previously developed in the context of evolutionary and comparative genomics. To better understand the molecular changes, various omics could be further combined into multi-omics strategies; however, this might require the design of powerful high-throughput and high-performance computing resources as well as novel bioinformatics methods.

This Special Issue of Life invites authors to publish original research on all aspects of (i) multi-omics biology and (ii) human molecular disease diagnosis (WES, WGS, etc.), with preference for articles in the former demonstrating the potential of application to the latter. Potential areas for consideration include: (1) bioinformatics hardware systems design, software, and methods, possibly incorporating evolutionary and/or comparative omics aspects; (2) analyses of cohorts suspected of rare genetics diseases, considering the identification of their causes; (3) omics analyses involving the human and/or other evolutionarily close species; and (4) manuscripts considering the analyses of the human microbiome with potential to detect correlations with the affected human genetics and/or disease.

We have successfully published the first volume, and you can read the related publications through the following link: https://www.mdpi.com/journal/life/special_issues/5BE4W6K4N3

Dr. Emanuel Maldonado
Dr. Imran Khan
Guest Editors

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• bioinformatics
• computer hardware, software, and methods
• first-/second-/third-generation sequencing
• clinical genomics
• mendelian diseases
• whole-exome sequencing
• evolutionary and comparative genomics
• whole-genome sequencing
• multi-omics
• microbiome diseases