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Current collection continues the series of BioMed Central special post-conference issues presenting the highlights from the set of meetings on bioinformatics and systems biology held in Novosibirsk and Moscow, Russia in 2017. Year 2017 marks the 100-th anniversary since birth of Professor Dmitry K. Belyaev (1917–1985), Full Member of the USSR Academy of Sciences, world-famous visionary in evolution and genetics. In view of this memorable date, the Institute of Cytology and Genetics of the Siberian Branch of the Russian Academy of Sciences (ICG SB RAS) held international Belyaev Conference on Genetics (Novosibirsk, August 7–10, 2017 http://conf.bionet.ns c.ru/belyaev100/en). This Memorial Conference included special session on medical aspects of the genomics. In 2017, “Vavilov Journal of Selection and Breeding” published a series of memoirs publications about Prof. Belyaev (http://vavilov.elpub.ru/jour/issue/view/32/ showToc). Thematic issue of BMC Medical Genomics highlights the studies in medical applications of genome technologies presented at “Belyaev Readings 2017” (BR-2017) and “High throughput sequencing in genomics” (NGS2017) conferences in Novosibirsk (http://conf.nsc.ru/ HSG2017/ru/hsg2017_hsg_thesis). Modern technologies in medicine more and more become interconnected with advances in sequencing in fundamental evolutionary studies. Previously published special issues of BMC Evolutionary Biology and BMC Genomics covered the proceedings of BGRS\SB-2016 conference and SBB-2015 School in Novosibirsk [1–4] as well as BGRS\SB-2014 event (https://bmcgenomics.biomedcentral.com/articles/ supplements/volume-15-supplement-12). The materials on evolutionary biology and genetics were recently published in BMC Evol Biol (https://bmcevolbiol.biomedcentr al.com/articles/supplements/volume-17-supplement-2) and BMC Genetics Supplements (https://bmcgenet.biomedcentral.com/articles/supplements/volume-18-supplement1), correspondingly [5, 6]. This issue collected works on sequencing, genotyping, computational analysis and gene network reconstruction in human diseases. Anastasiya Snezhkina et al. [7] describe exome analysis of carotid body tumors, rare neoplasms of the paraganglia located at the bifurcation of carotid arteries. Exome analysis of 52 carotid body tumor samples for the first time revealed the average mutation load for these tumors and also identified potential driver mutations. The work by Maxim Ivanov and colleagues [8] discusses the results of using sequencing for ascertainment of genotypes in large group of patients with cystic fibrosis. Authors show that the choice of bioinformatics pipeline plays a crucial role in detecting clinically significant variants and highly influences diagnostic yield. Yu-Feng Huang et al. [9] continue the theme of cancer research by describing novel way to detect DNA sequence variants in microbial cell-free DNA present in blood. The authors found that the presence of DNA from certain bacterial genera may serve as a predictive biomarker of breast carcinoma outcome. Ulyana Boyarskikh and colleagues [10] present the results of computational analysis of the genes implicated in the response of lung cancer to certain types of the treatment. In cancer cells, small molecule Nutlin-3 reactivates p53 by interacting with the complex between p53 and its repressor Mdm-2 and causing an increase in cancer cell apoptosis. Using artificial intelligence approach embed in original software, the authors identified a set of transcription factors cooperatively binding to the promoters of genes up-regulated in the Nutlin-3 insensitive cell lines and * Correspondence: [email protected] Institute of Cytology and Genetics SB RAS, Novosibirsk, Russia Novosibirsk State University, Novosibirsk, Russia Full list of author information is available at the end of the article