This Research Topic aims to i) collect articles and reports that exemplify the importance of integrating multi-omics technologies in unraveling the causes of diseases, otherwise not solvable and ii) promote articles in which the integration of omics approaches has allowed us to elucidate or deepen the knowledge of the causes of disease.
Technological advancements have made it possible to study entire sets of molecules in various fields of human health and physiology. Genome-wide association study (GWAS), and more recently whole-exome sequencing (WES) and whole-genome sequencing (WGS), have allowed passing from genetics to genomics. However, single loci explain only a small fraction of the heritability of most diseases, which, in addition, might be caused by changes in gene regulation and expression rather than coding variants.
Genomics first and then transcriptomics, proteomics, epigenomics, and metabolomics are some of the global approaches that have evolved so far. The next natural step is integrating these omics approaches to get a holistic view of human diseases and to find out the complex mechanisms that lead to a disorder in a more realistic biological framework.
Medical genetics deals with the study of transmission modalities and the pathogenesis of diseases completely or partially caused by genetic variants. There is a continuum between simple Mendelian and complex disorders. There is not always a clear distinction. The study of non-classically mendelian diseases is getting more and more accessible in this new area of genetics, where the recently developed technologies, together with the bioinformatics tools could help to explore all the biological molecules of one or more individuals.
Unfortunately, although numerous tools are available for multi-omics integrations, their potential is not yet fully exploited in the field of medical genetics.
This Research Topic aims to collect articles and reports that exemplify the importance of integrating multi-omics technologies in unraveling the causes of diseases, otherwise not solvable and to promote articles in which the integration of omics approaches has allowed us to elucidate or deepen the knowledge of the causes of disease.
We aim at selecting papers where clinical cases have been approached by studying at least two sets of different biomolecules such as DNA, RNA, proteins or others, and that, by their integrative analysis, have highlighted how the multi-omics approach has been successful. All articles must include exploration of genotype-phenotype relationships. Submissions solely focused on expression analyses are not responsive
This Research Topic aims to i) collect articles and reports that exemplify the importance of integrating multi-omics technologies in unraveling the causes of diseases, otherwise not solvable and ii) promote articles in which the integration of omics approaches has allowed us to elucidate or deepen the knowledge of the causes of disease.
Technological advancements have made it possible to study entire sets of molecules in various fields of human health and physiology. Genome-wide association study (GWAS), and more recently whole-exome sequencing (WES) and whole-genome sequencing (WGS), have allowed passing from genetics to genomics. However, single loci explain only a small fraction of the heritability of most diseases, which, in addition, might be caused by changes in gene regulation and expression rather than coding variants.
Genomics first and then transcriptomics, proteomics, epigenomics, and metabolomics are some of the global approaches that have evolved so far. The next natural step is integrating these omics approaches to get a holistic view of human diseases and to find out the complex mechanisms that lead to a disorder in a more realistic biological framework.
Medical genetics deals with the study of transmission modalities and the pathogenesis of diseases completely or partially caused by genetic variants. There is a continuum between simple Mendelian and complex disorders. There is not always a clear distinction. The study of non-classically mendelian diseases is getting more and more accessible in this new area of genetics, where the recently developed technologies, together with the bioinformatics tools could help to explore all the biological molecules of one or more individuals.
Unfortunately, although numerous tools are available for multi-omics integrations, their potential is not yet fully exploited in the field of medical genetics.
This Research Topic aims to collect articles and reports that exemplify the importance of integrating multi-omics technologies in unraveling the causes of diseases, otherwise not solvable and to promote articles in which the integration of omics approaches has allowed us to elucidate or deepen the knowledge of the causes of disease.
We aim at selecting papers where clinical cases have been approached by studying at least two sets of different biomolecules such as DNA, RNA, proteins or others, and that, by their integrative analysis, have highlighted how the multi-omics approach has been successful. All articles must include exploration of genotype-phenotype relationships. Submissions solely focused on expression analyses are not responsive