The combination of improving technologies for molecular interrogation of global molecular alterations in human diseases along with increases in computational capacity, have enabled unprecedented insight into disease etiology, pathogenesis and have enabled new possibilities for biomarker development. A large body of data has accumulated over recent years, with a most prominent increase in information originating from genomic, transcriptomic and proteomic profiling levels. However, the complexity of the data made discovery of highorder disease mechanisms involving various biological layers, difficult, and therefore required new approaches toward integration of such data into a complete representation of molecular events occurring on cellular level. For this reason, we developed a new mode of integration of results coming from heterogeneous origins, using rank statistics of results from each profiling level. Due to the increased use of nextgeneration sequencing technology, experimental information is becoming increasingly more associated to sequence information, for which reason we have decided to synthesize the heterogeneous results using the information of their genomic position. We therefore propose a novel positional integratomic approach toward studying ‘omic’ information in human disease.
P Dogan, IG Varal, O Gorukmez, MO Akkurt and A Akdag
). The raw reads were aligned to the human reference genome (GRCh37/ hgl9). Variant filtering and interpretations were performed on the Sophia DDM™ platform (Sophia Genetics SA), and an Integrative Genomics Viewer (IGV) was used to visualize the BAM (binary alignment map) files [ 5 ]. In families with consanguineous marriages, homozygosity mapping is carried out with HomSI ( www.igbam.bilgem.tubitak gov.tr/softwares/ HomSI) [ 6 ]. Next generation sequencing (NGS) showed a heterozygous missense variation, c.2546G>A, p.Gly849Asp on the COL2A1 gene that was confirmed
Angel M. Dzhambov, Karamfil M. Bahchevanov, Kostadin A. Chompalov and Penka A. Atanassova
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12. Browning MHEM, Olvera Alvarez HA. Editorial commentary: Scanning for threats and natural environments giving our
Molecular Pathogenesis of Hepatocellular Carcinoma
The most important risk factors for the development of human hepatocellular carcinoma (HCC) are chronic infection with hepatitis B virus (HBV) and/or hepatitis C virus (HCV), high dietary exposure to hepatic carcinogen aflatoxin B1 and alcohol abuse. Hepatitis B virus exerts its effects through integration of the viral DNA into the hepatocyte genome, or through acting as transcriptional regulator for several cellular proto-oncogenes and tumor-suppressor genes. Hepatitis C virus may affect hepatocytes via the transcriptional regulation activity of the HCV core protein or via the HCV non structural proteins NS5A, NS5B and NS2, interfering with the regulation of cell cycle and apoptosis. Environmental exposure to aflatoxin B1 can cause a specific missense mutation in codon 249 of the p53 tumor-suppressor gene. Habitual alcohol consumption leads to production of reactive oxygen species and peroxidation damage to DNA. The objective of this review is to make you acquainted with the most common risk factors and the most frequent genetic aberrations associated with the development of HCC.
Cristina Patuzzo, A Pasquali, E Trabetti, G Malerba, PF Pignatii, M Tessari and G Faggian
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–25, 2018, Cha-am, Petchaburi, Thailand. We hope this special series of anatomy themed issues of Asian Biomedicine , will assist anatomists and scientists in other fields to gain more experience to adapt and integrate into all biomedical research paradigms. We expect this series will be of worthiness to all readers, and that its information can be applied and implemented to improve clinical practice. Finally, we extend our appreciation to all authors and researchers who dedicated their time to the compilation of this work. The August 2018 issue of Asian Biomedicine is
–25, 2018, Cha-am, Petchaburi, Thailand. This special series of anatomy themed issues of Asian Biomedicine , we hope will assist anatomists and scientists in other fields to gain more experience to adapt and integrate into all biomedical research paradigms. We also expect this series will be of worthiness to all readers, and that its information can be applied and implemented to improve clinical practice. Finally, we would like to extend our appreciation to all authors and researchers who dedicated their time to the compilation of this work. The June 2018 issue of Asian
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12. Frone MR, Yardley JK, Markel KS. Developing and testing an integrative model of the work