To implement a modern personalized approach in practical healthcare, the latest biomedical technologies should be developed and genetic research should be performed. The analysis of a substantial quantity of data is essential for the investigation of the prevalence of genetic risk factors for various diseases, drug resistance genes, the development of genetic panels to determine the individual risk of pathologies, as well as the creation of genetic risk scores. The review demonstrates through the use of illustrative examples that contemporary biobanks have become a vital component in the field of genetics research, both in Russia and globally. These specialized institutions are capable of accumulating, storing, and utilizing a substantial quantity of biological samples and related data, which is essential for advancing genetic research. The data collected in biobanks and associated clinical information form the basis for large-scale genetic studies conducted in different countries. The efficacy of genetic advancements, such as the early diagnosis of diseases, is contingent upon the number of biobanks, the establishment of collaborative networks among them, and the capacity to leverage digital platforms uniting diverse databases. Biobanks and biobanking have emerged as the foundation for the advancement of personalized medicine.

Aim. To present an approach to collection of biosamples of patients with rare and scientifically interesting clinical situations for solving the problems of personalized medicine, as well as to analyze related 8-year experience.

Material and methods. The approach and a collection of biosamples of blood and its derivatives is developed at the National Medical Research Center for Therapy and Preventive Medicine within the project "Interesting Cases at the National Medical Research Center for Therapy and Preventive Medicine". The collection of biomaterial from project patients was carried out on a planned basis with the inpatient department, as well as upon referral from outpatient doctors. All included patients signed informed consent. Each biosample is accompanied by an extensive annotation, including socio-demographic, clinical, genetic and other types of data. The article presents the project results as of August 12, 2024.

Results. An expert group developed 15 disease groups and related inclusion criteria. At the time of analysis, 4525 inpatients and outpatients were included in the project. Positive changes in the number of people included annually is noted. Genetic testing was performed on >2500 patients. The proposed approach allows solving a wide range of clinical and research problems in personalized medicine as follows: timely diagnosis or clarification; formation of patient cohorts to study the genetic aspects of diseases; identification of new genetic variants of hereditary diseases; development of genetic diagnostic panels; study of rare diseases; reduction of sample creation time in case of novel scientific ideas.

Conclusion. The proposed approach to the collection and preservation of biosamples and related clinical, socio-demographic, genetic and other types of data in patients with rare clinical cases of scientific interest is important and effective for solving practical and research problems of personalized medicine. The algorithm is well developed, standardized and easily implemented within the clinics, regardless of their size. Preanalytical phase standardization creates the prerequisites for multicenter national and international cooperation.

Aim. To create a collection of plasma samples of patients with brain tumors (BTs) for the development of a diagnostic microRNA (ribonucleic acid) panel of glial tumors.

Material and methods. Plasma samples of patients with benign and malignant BTs were obtained by double centrifugation of whole blood and then frozen at -75оС.Fifty-nine RNA samples isolated from blood plasma were analyzed by next-generation sequencing (NGS).

Results. Currently, the biobank contains samples from 339 patients with primary and secondary BTs and 10 control group individuals (698 samples — 2 plasma aliquots per individual), including 143 men and 206 women. The age of the patients ranged from 19 to 91 years (median — 56 years). Primary BTs (41%) included two following groups: benign (33,7%) and malignant (66,3%). Meningiomas constituted the bulk (91%) of the benign BTs. Among the malignant tumors, glioblastomas (46,7%) and astrocytomas (41,6%) prevailed, while oligodendrogliomas and ependymomas accounted for only 9,1 and 2,5%, respectively. Secondary BTs (59%) are represented by recurrent glial tumors (92,5%) and metastatic tumors (7,5%) of lung cancer (71,4%) and breast cancer (28.6%). A protocol for the primary preparation of liquid biopsy samples was implemented, which made it possible to obtain high-quality deoxyribonucleic acid libraries for the selected microRNA profiling platform.

Conclusion. The creation of a plasma sample collection is the basis for searching circulating biomarkers of BTs.

Aim. To evaluate clinical associations and predictive value of lipoprotein transport and metabolism markers determined in a collection of serum samples from patients with myocardial infarction (MI).

Material and methods. Collection of blood samples from 88 patients with the acute MI was created in the Biobank of Yugra laboratory for subsequent biochemical assessment of serum levels of lipoprotein transport and metabolism markers. All patients were included in a clinical prospective study for 48 months with registration of medical events and remote tomographic assessment of coronary artery (CA) involvement upon follow-up completion.

Results. Direct associations were established between proprotein convertase subtilisin/kexin type 9 (PCSK9) levels and low-density lipoprotein cholesterol levels, coronary atherosclerosis, Global Registry of Acute Coronary Events (GRACE) 2.0 risk score, and the risk of recurrent acute coronary syndrome. Lipoprotein (a) levels >50 mg/dl were detected in 28,4% of patients with MI and were associated with prior medical events, coronary and non-coronary artery atherosclerosis, comorbidity, recurrent coronary lesions, and the risk of major cardiac events at the end of follow-up. A relationship was established between a high (5,14) triglyceride-glucose index and comorbidity, recurrent coronary lesions, and the death risk at the end of follow-up.

Conclusion. The Biobank of Yugra laboratory is an effective base for laboratory research. Lipoprotein transport and metabolism markers are associated with clinical factors, comorbidity, vascular atherosclerosis and a negative prognosis in patients with MI.

Despite the fact that databanks of genomic sequences have clear information links with biological samples, they are an independent intellectual resource in demand among many researchers. To deposit information obtained in the course of molecular genetic studies in Russia, the Virus Genome Aggregator of Russia (VGARus) databank was created.

Aim. To evaluate data on the variability of genetic sequences of the Epstein-Barr virus (EBV), obtained as a result of Russian studies, and the possibility of their integration into the VGARus database for

subsequent use in epidemiological surveillance.

Material and methods. A search for publications was carried out in the PubMed, eLibrary, Cyberleninka databases. In total, the study included 32 papers of Russian and external authors that meet the stated aim. Results. The number of studies containing data on the EBV genetic sequences in the Russian Federation is extremely small. The information presented in publications indicates geographical differences in the ratio of two EBV genotypes, the presence of a special LMP1 TatK gene variant in the Tatars of the Volga region, the difference between Russian EBV samples in the gene encoding the gp350 from those from other world regions. At the same time, information on the genomic sequences obtained in the studies was not deposited in the Russian gene bank in any case.

Conclusion. Expanding the potential of the Russian VGARus platform by including information on the genomic sequences of all pathogenic microorganisms circulating in the Russian Federation will require largescale work that takes into account technical features, biological and information security requirements.

Information on morbidity is presented in statistical reports for the entire population of multinational subjects of Russia, but population Biobanks contain information on individual peoples.

Aim. To develop a technology for assessing the frequency of deoxyribonucleic acid (DNA) markers for administrative units based on indigenous population data, which will make it possible to assess the relationship between the frequency of DNA markers and morbidity.

Material and methods. The Biobank of Northern Eurasia presented the frequencies of 24 DNA markers associated with cardiovascular disease (CVD) for 86 indigenous peoples of Russia (6227 DNA samples). Information on the ethnic composition of 83 Russian regions was extracted from the 2010 census, and the CVD incidence in 85 Russian regions (2020-2021) was assessed by data from the Ministry of Health of Russia.

Results. The data on the gene pools of the indigenous population and the ethnic composition of Russian regions made it possible to assess the frequencies of 24 DNA markers in 85 Russian regions. The obtained frequencies allowed us to directly assess their relationship with CVD in Russia — chronic rheumatic heart diseases, cardiomyopathy, coronary artery disease, hypertension, acute myocarditis. Technology application data are presented in the form of tables and genogeographic maps of the distribution of 24 CVD DNA markers in Russian subjects, the geography of morbidity in Russian subjects for five CVDs, and the correlation of the distribution of the frequency of CVD DNA markers and the incidence of CVD among the population of Russia.

Conclusion. The proposed technology for assessing the modern gene pool in Russian subjects based on the data on the gene pool of the indigenous peoples of Russia for the first time made it possible to assess the relationship between clinically significant DNA markers and morbidity in Russia.

Aim. Modern large-scale biocollections and related open databases play a critical role in the development and implementation of novel approaches to prevention and diagnostics, as well as in improvement of treatment of hereditary pathologies. The aim of this study was to analyze the carriage rate of miscarriage-related variants in the Russian population presented in the RUseq database.

Material and methods. The first Russian open database of genetic variants and their rate in the Russian population (RUSeq) was used as the main source of information on allele frequencies. We analyzed 270 known genetic variants described as a cause of miscarriage. A search for pathogenic variants in 18 key miscarriage-related genes was conducted.

Results. We revealed that 10 out of 270 variants described as a miscarriage cause are found in the Russian population. In addition, 46 known or new potentially pathogenic variants were found in 10 key genes that are possible markers of miscarriage risk. In one case (NEB gene), the cumulative frequency of such variants exceeded 0,5%.

Conclusion. The obtained results emphasize the importance of genetic databases and the need for further study of miscarriage-realted gene disorders, as well as the inclusion of identified variants in preconception genetic testing programs for couples in order to determine pregnancy planning and management.

Aim. To study and describe the most common types of artifacts in detection of short tandem repeat (STR) amplicons by capillary electrophoresis and cause difficulties in interpreting the obtained STR profiles.

Material and methods. Cell lines were obtained from the bioresource collection of cell lines of the Blokhin National Medical Research Center of Oncology. DNA was isolated according to the manufacturer’s instructions of the DNeasy Blood & Tissue (QIAGEN, Germany) and ExtractDNA Blood & Cells (Evrogen, Russia) kits. DNA concentration was measured using a Qubit 4.0 device (Thermo Fisher Scientific, USA) and a Qubit dsDNA BR Assay Kit (Thermo Fisher Scientific, USA). Multiplex PCR was performed using a COrDIS EXPERT26 reagent kit (Gordiz, Russia). Capillary electrophoresis of PCR products was performed on a 3500xL Genetic Analyzer (Applied Biosystems, USA). GeneMapper Software v6.0 (Thermo Fisher Scientific, USA) was used to process electrophoresis data.

Results. The most well-known artifacts associated with the STR profiling and subsequent capillary electrophoretic separation of amplicons were studied. Cases of detection of these artifacts from personal practice are given. Recommendations for improving the electrophoresis pattern are given.

Conclusion. The paper studies the artifacts of analysis in cell line STR profiling by capillary electrophoresis (STR-CE), which researchers encounter in laboratory practice. Common types of analysis artifacts that cause difficulties in interpreting the results obtained during STR profiling, as well as possible reasons for their occurrence, are described in detail and illustrated with examples from our own practice. Recommendations are given for reducing the number of non-specific fluorescent signals and their intensity.

The article highlights the experience of the "Genofund" biobank of the Ott Research Institute of Obstetrics, Gynecology and Reproductology in bioresource collection in modern obstetrics. To create different types of collections, the following different biobanking strategies were formulated for the first time: cross-sectional and longitudinal (dynamic). Definitions are given for these approaches. The most significant advantages and disadvantages of each of them are noted. Examples of pilot studies conducted on the platform of a bioresource collection created using the complex longitudinal biobanking are given. This approach made it possible to demonstrate, using the example of microRNA analysis, the potential of studying the physiological changes during pregnancy at the present stage, as well as the prospects for finding early predictors of pregnancy complications.

Modern research in cell biology places high demands on the model objects used, including cell cultures. These requirements are dictated by the need to avoid artifacts in work and reduce potential risks to the environment associated with biological hazard. The article presents the experience of creating cell culture bank for personal and public storage at the Pokrovsky Cell Technology Center. The main points of managing the collection, incoming quality control, certification, processing, preparation for storage and storage of human biological materials are considered. The developed approaches and work algorithms made it possible to create a collection of early passage cultures consisting of certified samples that meet the requirements for cell cultures for the manufacture of high-tech drugs and biomedical cell products, as well as for research.

Aim. To study the applicability of RNA (ribonucleic acid) sequencing with master regulator identification for predicting the effectiveness of targeted therapy in patients with colorectal cancer.

Materials and methods. Tissue samples from three patients with colorectal cancer obtained from postoperative material were used. All patients received palliative antitumor therapy in standard regimens in accordance with the tumor location and the status of RAS and BRAF gene mutations. The transcriptome of tumor and healthy tissue of each patient was sequenced, and master regulators in the tumor tissue were analyzed.

Results. A list of master regulators was found for each patient and possible therapeutic agents most suitable for suppressing the tumor process were predicted.

Conclusion. The potential of computer analysis of the molecular profile of colorectal adenocarcinoma in predicting the effectiveness of therapy is shown. However, to determine the clinical potential of this technique, a study on a wider sample is required.

Aim. To assess non-invasive prenatal testing (NIPT) as an informative criterion for quality of blood plasma and cell-free deoxyribonucleic acid (DNA) (cfDNA) in the case of using stabilization tubes at the preanalytical phase, in the example of plasma samples subjected to long-term storage at room temperature (+18о С) and multiple freezethaw cycles.

Material and methods. The plasma samples were subjected to 20 freeze-thaw cycles (-80о С/+18о С), 20-day storage at +18о С with an intermediate cfDNA assessment. The quantitative yield was assessed by fluorometry, while the fragmentation and NIPT data — using realtime polymerase chain reaction (PCR) and high-throughput sequencing, respectively.

Results. After multiple freeze-thaw cycles and long-term plasma storage at room temperature (+18о С), a decrease in the integrity and the concentration of cfDNA by the 20th thawing cycle, as well as a tendency to an increase in concentration by 20 days of storage were observed. Despite this, the NIPT results of the studied samples showed a high degree of coincidence with the NIPT data of the reference samples.

Conclusion. The mere fact of successful NIPT cannot be considered as a reliable and sufficient criterion for assessing the quality of initial plasma and correct preanalytics. This emphasizes the particular importance of monitoring the conditions for transporting and storing plasma and whole blood samples.

Over the past decade, circulating small non-coding ribonucleic acid molecules (microRNAs) have demonstrated their potential as minimally invasive diagnostic and prognostic biomarkers of various diseases. Standardization of preanalytical and analytical factors, including collection, processing and storage of biosamples, plays a significant role in the reliability and reproducibility of circulating microRNA quantification. To date, there is no consensus regarding the data normalization used in the analysis of circulating microRNA expression. The review aim is to consider modern original papers on various storage conditions of biobanked plasma and serum samples with subsequent isolation of circulating microRNAs for analysis.

A systematic review of publications from the PubMed and eLibrary. ru databases, Biobanking and Biomolecular Resources Research Infrastructure — European Research Infrastructure Consortium (BBMRI-ERIC) and ClinicalTrials.gov studies was carried out for 15 years. The aim was to find priority areas for the use of biobanks in cardiology. The key areas of research on blood and heart tissue biobanks are the study of pathogenetic mechanisms, creation of innovative methods for diagnosis, treatment and prevention of cardiovascular diseases (CVDs). The use of modern technologies such as genomics, transcriptomics, proteomics and metabolomics allows identifying candidate markers, revealing new molecular targets for drug therapy, diagnostic and therapeutic approaches for CVD. One of the promising areas is the search and study of polygenic scores of CVD risk and predictors of adverse cardiovascular events. Analysis of the registry revealed another important area of biobank application — clinical trials, in which biobanks are a key resource of blood and tissue samples, as well as clinical, paraclinical, and socio-demographic data. Therefore, studies using biobank resources are necessary to study the pathogenetic mechanisms of CVD, identify new proteomic biomarkers and genetic factors, as well as to improve diagnostics, prevention and treatment.

Circulating microribonucleic acids (microRNAs) are promising biomarkers of various diseases, but their clinical laboratory use requires highly sensitive, reproducible, reliable and sustainable methods for their accurate plasma and serum quantification. The preanalytical phase of studies conducted using biospecimens consists of their collection, processing, storage and transportation. Preanalytical conditions remain the main distorting factors in microRNA studies, and standardization of these conditions, carried out in biobanks, can improve the reproducibility of results and their comparison. The review aim is to consider the main contemporary original studies on preanalytical factors, which are an important source of variability in studies on circulating microRNAs at the stages from blood collection to plasma or serum production.

High-throughput sequencing of small ribonucleic acid (RNA) molecules is widely used to search for markers of various diseases, as well as to study the regulation of gene expression. The data processing protocol consists of many stages, including the stages of analyzing the initial data quality and sequencing results, mapping and studying the expression profile of the detected small RNA molecules. A whole arsenal of programs and specific packages has already been developed to implement each study step. The instrumental composition of the final bioinformatics protocol is critically important for the correct data processing and study reproduction. This review describes the most universal protocol for processing the results of high-throughput sequencing of small RNA molecules, including all the main stages and the most widely used programs.