Significant differences between the gene pools of Russian peoples require the development of ethno- regional adapted pharmacogenetic tests and the identification of priority regions for their implementation.

Aim. To develop a genogeographic technology to identify selection effects using the example of biomarkers that are significant for pharmacotherapy of patients with cardiovascular diseases (CVD), using a population biobank and the Pharmacogenetics of Populations of Russia and Adjacent Countries database.

Material and methods. Deoxyribonucleic acid (DNA) samples from the Biobank of Northern Eurasia from 20 metapopulations of the indigenous population of the European Russia were studied using two following data sets: 24 pharmacogenetic markers of CVDs (3170 samples); 1 276 191 polymorphic DNA markers of the autosomal genome (1293 samples). For each data set, estimates of interpopulation variability in the gene pool are provided — the difference between these estimates characterizes the selection pressure on each of the 24 CVD biomarkers. A genogeographic atlas has been created, the maps of which demonstrate the selection pressure on each biomarker according to the degree of deviation from the selective- neutral variability of the gene pool.

Results. Twenty-four CVD biomarkers are divided into three following classes: those close to selective- neutral variability, those subject to stabilizing and differentiating selection. For each of the 24 CVD biomarkers, genogeographic maps were created that reveal selection effects in each of the 20 metapopulations. Most maps have identified populations that are under differential selection pressure and therefore a priority for the implementation of ethno- regionally adapted pharmacogenetic protocols.

Conclusion. Pharmacogenetic markers and populations under differential selection require the development of ethno- regionally adapted pharmacogenetic tests. The created cartographic atlas of selection can serve as the basis for pharmacogenetic studies carried out using genogeographic methods.

Bioresource collection of the N. N. Blokhin National Medical Research Center of Oncology is a unique structured biobank that combines different types of primary and subsidiary samples and ensures its comprehensive characterization, including both generally accepted indicators and specific types of research. Samples of paraffin blocks, frozen material, blood and its derivatives are deposited in the clinical department of the center. The research institute of the center has collected commercial and unique human cell lines and transplantable strains obtained from clinical material, as well as cells from laboratory animals, mainly of mouse origin. The provided cell lines undergo multi- stage quality control, including confirmation of authenticity, assessment of viability and determination of optimal cultivation conditions, analysis of interspecific and intraspecific contamination, study of tumorigenicity and reproducibility in athymic Balb/ c-nude mice, etc. In addition, the Bioresource Collection has hybridoma clones that produce antibodies to a wide range of targets. The Center provides the opportunity to conduct preclinical research using samples from the Bioresource Collection to obtain scientific and regulatory data on the antiproliferative activity of new agents or methods for cancer treatment.

Aim. To create collection of plasma and leukocyte blood samples from pregnant women to improve methods of non-invasive prenatal testing, as well as to search for deoxyribonucleic acid markers and study the molecular mechanisms of gestational complications.

Material and methods. The collection creation process uses original standard operating procedures. The biomaterial for storage was plasma and leukocytes from the blood of pregnant women.

Results. As of July 2023, the collection contains samples of blood plasma and buffy coat suspension from 5814 pregnant women. For 5692 women, whole- genome sequencing of extracellular deoxyribonucleic acid from blood plasma was performed on an Ion GeneStudio S5 system (Thermo Fisher Scientific Inc, USA). Data on cytogenetic examination of fetal material after invasive prenatal diagnosis were collected from 522 women. In 241 cases, samples were obtained from pregnant women with fetuses with a normal karyotype and in 282 cases from pregnant women with fetuses with chromosomal abnormalities. After pregnancy ended with childbirth, data on the course and outcomes of pregnancy were collected from 590 women. In 212 cases, pregnancy was complicated by great obstetrical syndromes. Based on the collection, a previously developed bioinformatic algorithm for non-invasive prenatal analysis was tested on a DNBSEQ-G50 sequencer (MGI, China). The obtained specificity corresponded to the expected one and was >99,9%. The sensitivity of the method is 100%.

Conclusion. The created collection, as well as the clinical and genomic data associated with it, is a valuable resource for basic and applied research.

Aim. To conduct an inventory and quality control of biosample collection from pregnant women at different gestational ages to search for early biomarkers of pregnancy complications.

Material and methods. In this work, methods for assessing the sample preparation of biosamples were used, including the isolation of deoxyribonucleic acid (DNA)/ribonucleic acid from various biomaterials, polyacrylamide gel electrophoresis of protein, and database analysis.

Results. Inventory and quality control of the collection (n=18390) was carried out, which confirmed the high safety of the biomaterial, regardless of storage period. The mean concentration of DNA was 69,96±6,56 ng/µl, extracellular DNA (ecDNA) — 0,20±0,02 ng/µl, ribonucleic acid — 38,16±5,69 ng/µl. DNA Integrity Number (DIN) >9, RNA integrity number (RIN) >7, A260/280 >1,8 were for all studied samples. Protein electrophoresis demonstrated no degradation of protein zones after longterm storage. The number of errors detected during the inventory was 84 (0,46% of all records in the database), while there were 64 donors with incomplete clinical information (15% of all donors in the collection).

Conclusion. The necessity of mandatory implementation of standard operating procedures when creating and maintaining a collection, on the one hand, and periodic inventory with biosample quality assessment, on the other, has been demonstrated.

Aim. To develop an algorithm and manage total biobanking of samples of whole blood, serum and plasma of patients in the hospital of the National Medical Research Center for Therapy and Preventive Medicine in order to create a detailed biosample collection through the integration of electronic medical records and a biobank database.

Material and methods. The study includes all patients admitted to the hospital of the National Medical Research Center for Therapy and Preventive Medicine in various departments who signed informed consent for biobanking. Clinical information is collected as part of patient examination and stored in electronic medical records in the Medialog medical information system. Biobanking of blood and related products is carried out in accordance with standard operating procedures. From each patient, 12 aliquots of serum and blood plasma are stored, as well as 1 tube of whole blood with ethylenediaminetetraacetic acid potassium salt. Information about biospecimens, patient identification numbers and storage location coordinates are contained in the biobank database.

Results. An algorithm for total biobanking of biomaterial and data from inpatients has been developed and put into practice. This collection is associated with large biomedical data stored in a medical information system, laboratory information system and biobank. The combined databases make it possible to search for samples in the collection according to specified criteria.

Conclusion. The collection developed can be used for a wide range of studies by forming patient samples according to the necessary criteria. The developed algorithm for total biobanking in a hospital can be used in various medical centers equipped with biobanks.

In connection with the development of genetic and other types of research in translational medicine, collections containing a significant number of biospecimens and large data sets are required. Since in-depth examination of patients is most often carried out during hospitalization, the creation of collections based on electronic medical records (EMR) data is promising. In this regard, the project "Total biobanking in the hospital of the National Medical Research Center for Therapy and Preventive Medicine" was initiated, aimed at total biobanking of blood and related products from patients in inpatient departments and the creation of a unified system that combines information on biosamples, clinical and other types of data.

Aim. To describe the collection of biospecimens collected within the project "Total biobanking in the hospital of the National Medical Research Center for Therapy and Preventive Medicine" for August 2023, and to analyze the process of biospecimen description.

Material and methods. Recruitment of patients is carried out on the basis of inpatient departments of the National Medical Research Center for Therapy and Preventive Medicine, only if the patient signs informed consent. After blood is taken, the biomaterial enters the biobank, where sample preparation and storage is carried out, as well as data about each biosample is entered into a special FreezerPRO system. At the same time, clinical data about the patient is collected using EMR, which are combined in the Medialog medical information system.

Results. A special software for data exchange between the medical information system and the biobank has been developed, which combines information about patients entering the Medialog medical information system and the FreezerPro biospecimen management system, which contains detailed information about biospecimens. As of August 25, 2023, biomaterial from 3996 patients was collected, which was accompanied by a detailed clinical summary. In particular, data is available on diagnoses (for 100% of patients), laboratory test data (100%), paraclinical data, in particular, electrocardiography (100%), echocardiography (76,8%), 24-hour Holter monitoring (59,8%), esophagogastroduodenoscopy (27,3%), etc. The most common diseases were hypertension (76,0%), atherosclerosis (69,9%), coronary artery disease (52,9%), arrhythmias (50,6%), diabetes (19,2%). In addition, 25,0% of patients had prior stenting.

Conclusion. Total biobanking within the hospital of a multidisciplinary research medical center allows for the rapid and high-quality collection of biomaterial and related data. A collection of biospecimens with comprehensive and detailed clinical annotations has been collected. A primary analysis of the collection was carried, which showed that it can be used for a wide range of studies.

Aim. Creation of a sample collection of whole blood, leukocyte suspension, genomic deoxyribonucleic acid from patients with myocardial infarction for fundamental and applied research in medicine.

Materials and methods. The collection, transportation and processing of biomaterial samples in the biobank of the Medical Institute of Surgut State University were carried out according to standard methods using recommendations, standard operating procedures and national guidelines for biobanking.

Results. As of September 1, 2023, the collection has collected 744 aliquots of whole blood and leukocyte suspension and isolated 108 samples of genomic deoxyribonucleic acid from 108 donors after myocardial infarction. Aliquots of samples from the biobank collection are actively used for a number of molecular genetic studies (genotyping, massively parallel sequencing).

Conclusion. This biosample collection on the basis of Surgut State University provides current and future research projects in cardiology with high-quality biomaterial.

Aim. To develop the BioVitrina web repository for visualizing data on biological samples available in the organization (https://bb.ibmc.msk.ru).

Material and methods. The following set of tools was used: PostgreSQL 12, Python 3.8 scripting language, Django 3.2.7, Angular 12.2.13, Nginx, Docker 3, Redis 6.

Results. Biological samples are systematized according to the International Classification of Diseases, 10th revision (ICD-10). After selecting the most suitable biosamples, the User has the opportunity to submit a request for their receipt. A necessary condition for obtaining biological samples is the subsequent publication of the results of experimental studies in the BioVitrina web repository. Such an exchange of analytical research results will avoid repetition of similar studies and will contribute to the conservation of material resources.

Conclusion. "BioVitrina" was developed to optimize the infrastructure of biobanks of organizations and ensure the availability of information about their existing bioresource collections. This will solve many issues related to the use of different types of biomaterials, both for research and clinical purposes in personalized biomedicine.

One technology that helps overcome the problem of low research reproducibility is biobanking, which involves maintaining strict quality standards at all stages. In addition to data on the biosample (detailed documentation on sampling, transportation, preparation and subsequent storage), one of the key points is the availability of information about the donor (patient). The aim of this article was to analyze creating clinical abstract of biospecimens, combining data from various biobanks and assessing the possibilities of electronic medical records and other modern technologies for this. The search for publications was carried out in the PUBMED, eLIBRARY.RU, RSCI databases. One approach to creating a clinical description is the targeted collection of information by a specially trained employee. Primary information is most often taken from the individual records of the study participant, which are developed and approved when planning work. An alternative method is the use of electronic medical records and other documents that collect information during the assessment and treatment of patients. There are also mixed types of clinical data collection, a prime example of which is the UK Biobank. Completeness, structure, and standardization are essential characteristics of clinical description associated with biospecimens. Various standards are currently being developed to unify clinical description, making biobanks and collections more available to external researchers and organizations, which is necessary for collaboration and more efficient use of stored biospecimens. Harmonization of clinical description methodology between different biobanks open up broad boundaries for large- scale research within personalized and translational medicine.

Currently, monitoring infectious morbidity, control and forecasting the epidemic process is a topical health problem.

Aim. To analyze the capabilities of the biobank for serological monitoring of infectious diseases using the Epstein- Barr virus (EBV), which is associated with infectious mononucleosis, as well as somatic pathology, including cancer.

Material and methods. Using the quantitative enzyme- linked immunosorbent assay for specific antibodies to various EBV proteins, we studied blood serum samples from healthy individuals (2010, 2016, 2019, 2020, 2021 and 2022) from the collection of the N. F. Gamaleya National Center of Epidemiology and Microbiology.

Results. For the first time, the intensity of EBV epidemic process among apparently healthy adult residents of the capital was assessed using samples of biological material and a biobank information database. At the time of examination, 0,8% of individuals were not infected with EBV, and 9,4% suffered reactivation of a chronic infection. There were no significant changes in detection rate of markers over the years.

Conclusion. Certified collections of blood sera can be effectively used to study population immunity, the prevalence of individual infections, population protection nationwide, etc.

Aim. To evaluate the safety of immunoglobulins (Ig) of different classes (IgA, IgM, IgG, IgE) under conditions of long-term low-temperature storage of blood serum samples.

Material and methods. The work used samples of blood serum from the collection of the Department of Epidemiology, examined by enzyme immunoassay for antibodies of classes IgA, IgM, IgG, IgE twice as follows: immediately upon receipt in the laboratory and after storage at a temperature of -70о C for 8 years.

Results. After the storage of seropositive sera, the level of IgA antibodies did not change significantly (p=0,7). For the remaining classes of immunoglobulins (IgM, IgG, IgE), a small (not >15%) but significant decrease (p<0,05), most pronounced for IgE, was observed. It was shown that the higher the antibody level in the samples during the first study, the more it decreased after long-term storage (correlation at p<0,05). This did not lead to false negative results, which is due to the greater accuracy in measuring small values.

Conclusion. Long-term low-temperature storage of serum samples in biobank conditions ensures the safety of antibodies of different classes and is the basis for the reliability of future studies.

Aim. To analyze the metabolomic profile of patients with coronavirus disease 2019 (COVID-19) using mass spectrometry methods and taking into account clinical and laboratory history. Studying the relationship between the severity of COVID-19 symptoms and the concentration of primary metabolites, primarily amino acids.

Material and methods. The retrospective study included serum samples from a total of 935 people (445 men and 490 women) with COVID-19 from the collection of the biobank of the City Hospital № 40. A metabolomic profile was studied in all samples using chromatography-mass spectrometry. The R language was used for statistical data processing.

Results. Based on the analysis, a difference in the metabolic profile of patients with COVID-19 was identified depending on the disease severity — for 52 of the 84 detected compounds, differences were observed with a significance of p<0,01. Significant differences in concentration were recorded for organic acids, amino acids and their derivatives.

Conclusion. Using samples from the biobank collection, a metabolomic study of the biomaterial of patients hospitalized with a diagnosis of COVID-19 was carried out. According to the results obtained, kynurenine, phenylalanine and acetylcarnitine are associated with COVID-19 severity. Differences in the metabolomic profile were identified in patients with cytokine storm at the time of blood collection. Potential biomarkers for cytokine storm were identified.

Peripheral blood hematopoietic stem cell (HSC) transplantation is a well-established procedure for the treatment of hematological, cancer and autoimmune diseases. In cancer patients, HSC transplantation allows the use of high-dose cytotoxic drugs in combination with radiation therapy during treatment, which provides a pronounced antitumor effect. The hematological toxicity of such treatment is eliminated by the sequential introduction of stem cells, which contribute to hematopoiesis restoration. Before transplantation, peripheral blood HSCs are subjected to collection and cryopreservation for further storage. An important requirement for cryopreservation is viable HSCs responsible for hematopoietic restoration. The aim of the review was to analyze the literature devoted to the influence of various methods of cryopreservation of human peripheral blood HSCs on the preservation of cell viability after thawing, as well as the development of adverse events in patients. Issues related to the use of various cryoprotectants, as well as methods for storing HSC grafts, are considered. The presented data indicate the need for further study of the effect of cryoprotectants on the human body and the cellular composition of the graft and improvement of protocols for HSC cryopreservation.

Aim. To validate and evaluate the accuracy of 14 genetic risk scores (GRSs) for type 2 diabetes (T2D), created earlier in other countries, using a Russian population sample from the biobank of the National Medical Research Center for Therapy and Preventive Medicine.

Material and methods. For genetic analysis, next generation sequencing data was used on a sample from the Russian population (n=1165) based on the biobank collection. The study included 14 GRSs associated with T2D.

Results. The study demonstrated that the predictive power of 12 out of 14 GRSs for T2D was replicated in the Russian population. As quality metrics, we used the area under the ROC curve, which for models including only GRS varied from 54,49 to 59,46%, and for models including GRS, sex and age — from 77,56 to 78,75%.

Conclusion. For the first time in Russia, a study of 14 T2D GRSs developed on other populations was conducted. Twelve GRSs have been validated and can be used in the future to improve risk prediction and prevention of T2D in Russia.

Aim. To assess awareness of biobanking among patients and healthcare professionals, and to identify factors influencing willingness to become donors and participate in the collection of biological material.

Material and methods. A qualitative study was conducted based on semi-structured interviews of doctors (n=11) and patients (n=11) of Tomsk medical organizations. The results obtained were processed using lexical and comparative analysis techniques.

Results. The experience of participation in biobanking was extremely limited among both patients and doctors, but those who had previous experience evaluated it positively. Patients and doctors had not received information about biobanks from official sources, but intuitively understood their functions and roles in biomedical research. Patients were willing to donate biomaterials, while doctors were willing to collect them, but both parties emphasized the importance of understanding the purpose and future use of the biomaterials. Patients wanted to ensure the safety of the collection procedures and the confidentiality of their personal data. The main motives for donating biomaterial were contribution to scientific development, potential attractiveness for the descendants of donors, social origin and material reward.

Conclusion. Popularizing biobanking and increasing the awareness of donors and healthcare professionals about the regulatory framework governing biobanking activities can help establish trust and enhance readiness for donation, even regarding invasive biomaterial collection procedures.