Omics Biology in Diagnosis of Diseases: Advances in Bioinformatics and Data Analyses

Dear Colleagues,

The study and diagnosis of many human diseases is often difficult due to a number of factors. Diseases have diverse causes, such as, for instance, interactions with the environment, food habits, 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 which 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, the 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.

This issue of Life invites authors to publish original research on all aspects of i) genome 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 software and methods, possibly incorporating evolutionary and/or comparative omics aspects; 2) analyses of cohorts suspected of rare genetics diseases considering the identification of its causes; 3) omics analyses involving the human and/or other evolutionarily close species; and 4) manuscripts considering the analyses of human microbiome (pathogens) or other factors with potential to influence the human genetics and/or cause disease.

Dr. Emanuel Maldonado
Dr. Imran Khan
Guest Editors

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• bioinformatics
• software and methods
• clinical genomics
• mendelian diseases
• evolutionary and comparative genomics
• whole-exome sequencing
• next-/third-generation sequencing
• whole-genome sequencing
• multi-omics
• microbiome diseases