Background: One of the most important and challenging issues in biomedicine and genomics is how to identify disease related genes. Datasets from high-throughput biotechnologies have been widely used to overcome this issue from various perspectives, e.g., epigenomics, genomics, transcriptomics, proteomics, metabolomics. At the genomic level, copy number variations (CNVs) have been recognized as critical genetic variations, which contribute significantly to genomic diversity. They have been associated with both common and complex diseases, and thus have a large influence on a variety of Mendelian and somatic genetic disorders. Results: In this review, based on a variety of complex diseases, we give an overview about the critical role of using CNVs for identifying disease related genes, and discuss on details the different high-throughput and sequencing methods applied for CNV detection. Some limitations and challenges concerning CNV are also highlighted. Conclusions: Reliable detection of CNVs will not only allow discriminating driver mutations for various diseases, but also helps to develop personalized medicine when integrating it with other genomic features.

Background The mechanism of many complex diseases has not been detected accurately in terms of their stage evolution. Previous studies mainly focus on the identification of associations between genes and individual diseases, but less is known about their associations with specific disease stages. Exploring biological modules through different disease stages could provide valuable knowledge to genomic and clinical research. Results In this study, we proposed a powerful and versatile framework to identify stage-specific cancer related genes and their dynamic modules by integrating multiple datasets. The discovered modules and their specific-signature genes were significantly enriched in many relevant known pathways. To further illustrate the dynamic evolution of these clinical-stages, a pathway network was built by taking individual pathways as vertices and the overlapping relationship between their annotated genes as edges. Conclusions The identified pathway network not only help us to understand the functional evolution of complex diseases, but also useful for clinical management to select the optimum treatment regimens and the appropriate drugs for patients.

Exploring the evolution process of cancers and its related complex molecular mechanisms at the genomic level through pathological staging angle is particularly important for providing novel therapeutic strategies most relevant to every cancer patient diagnosed at each stage. This is because the genomic level involving copy number variation (CNV) has been recognized as a critical genetic variation, which has a large influence on the progression of a variety of complex diseases. Great efforts have been devoted to the identification of recurrent aberrations, single genes and individual static pathways related to cancer progression. However, we still have little knowledge about the most important aberrant genes related to the pathology stages and their interconnected pathways from genomic profiles. In this study, we propose an identification framework that allows determining cancer-stages specific patterns dynamically. Firstly, a two-stage GAIA method is employed to identify stage-specific aberrant copy number variants segments. Secondly, stage-specific cancer genes fully located within the aberrant segments are then identified according to the reference annotation dataset. Thirdly, a pathway evolution network is constructed based on the impacted pathways functions and their overlapped genes. The involved significant functions and evolution paths uncovered by this network enabled investigation of the real progression of cancers, and thus facilitated the determination of appropriate clinical settings that will help to assess risk in cancer patients. Those findings at individual levels can be integrated to identify robust biomarkers in cancer progressions.

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