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This Special Issue of BMC Medical Genomics collates the papers presented at the biannual summit in Bioinformatics and Systems Biology BGRS\SB (Bioinformatics of Genome Regulation and Structure\Systems Biology) – 2018 (http://conf.bionet.nsc.ru/bgrssb2018/en/). This international conference takes place in Novosibirsk since 1998. To accompany this Special Issue, other Special Issues in the fields of genomics, bioinformatics, plant biology, evolutionary biology and systems biology are published as a part of following series: BMC Genomics, BMC Bioinformatics, BMC Systems Biology, BMC Genetics, BMC Evolutionary Biology and BMC Plant Biology [1–4]. In year 2017, respective highlights were organized into the Special Issues with reports from Belyaev Readings-2017 (http:// conf.bionet.nsc.ru/belyaev100/en) [5–8]. The papers comprising this issue of BMC Medical Genomics were discussed at the BGRS\SB–affiliated symposium “Systems Biology and Biomedicine” (SBioMed-2018) (http://conf.bionet.nsc.ru/ishg2018/en/). A brief summary of these papers is outlined below. We open up this Special Issue with an interesting report of a negative finding. After applying a variety of high-throughput technologies such as whole-exome sequencing, transcriptome and miRNA analysis, Alexander Lavrov [9] and his team did not find any reliable molecular markers for early prediction of primary resistance or intolerance to imatinib in adult patients with chronic myeloid leukemia (CML). This report contributes to the body of the literature demonstration a lack of consensus between the signatures describing primary responders and non-responders among CML patients [10, 11] and points at shortcoming of current approaches [12] for identifying diagnostic and prognostic biomarkers of human diseases. The following papers utilized high-throughput biomarker discovery approach for extracting insights concerning tumorigenesis. Jun Lu and co-authors [13] demonstrated that the treatment of non-small cell lung cancer (NSCLC) with anlotinib, a promising tyrosine kinase inhibitor that targets vascular endothelial growth factor receptor (VEGFR), fibroblast growth factor receptor (FGFR), platelet-derived growth factor receptors (PDGFR), and c-kit, may result in the development of resistance due to induction of macrophage inflammatory protein 2-alpha cytokine encoding gene CXCL2, which is involved in wound healing, cancer metastasis, and angiogenesis. Anna Kudryavtseva et al. [14] continue discussion on cancer studies by analysis of mutations in carotid body tumor. Carotid body tumor (CBT) is a rare neoplasm arising from carotid paraganglion in the head and neck [15]. This tumor is heterogeneous and could be associated with both germline and somatic variants. Molecular mechanisms of CBT development are not fully understood. The authors performed exome sequencing of tumors with paired lymph node tissues and peripheral blood obtained from the CBT patients. Mutation load was estimated as the number of somatic variants per megabase of the target regions covered by the Illumina library preparation kit. This work continues previous studies of the authors group on cancer cells presented after Belyaev conference 2016 [16]. Here Kudryavtseva and colleagues estimated mutation spectra and identified pathogenic somatic and germline variants in the patients. Elena Voropaeva et al. [17] comprehensively explored variability in TP53 in samples of diffuse large B-cell lymphoma (DLBCL) to show that two sequential inactivation events within that well-known tumor-suppressor locus are required for malignant transformation. Darya Skuratovskaya and her colleagues [18] profiled mtDNA copy number in various adipose tissue compartments and in peripheral blood mononuclear cells (PBMCs) of obese individuals with and without type 2 * Correspondence: [email protected] Institute of Cytology and Genetics SB RAS, 630090 Novosibirsk, Russia Novosibirsk State University, 630090 Novosibirsk, Russia Full list of author information is available at the end of the article