HLA molecules are expressed in almost all nucleated cells of the body. These molecules are extremely variable and responsible for tissue specificity recognition. Precise HLA typing is crucial for tissue and organ transplantation. Usually, HLA‐typing NGS methods are based on the assignment of reads to a certain previously reported HLA allele presented in the IPD‐IMGT/HLA Database. But there is a limited number of tools able to identify novel alleles that have not yet been reported and thus absent in the database. Such alleles carry mismatches distinguishing them from all known alleles in the database. Therefore, manual evaluation of the identified HLA alleles in the genome browser is a compulsory step in the analysis, and one that is labor intensive and time consuming. We present the development and validation of a freely available web‐application for the identification of novel HLA alleles in the most relevant HLA class I and II genes from NGS data. The tool can also be used for automated data quality assessment. The software was validated by analyzing 330 alleles. The results are concordant with orthogonal methods.
Introduction. One of the problems in providing Russian transplant clinics with unrelated hematopoietic steam cells (HSCs) is the lack of an interaction scheme “Registry — HSC collection center — Transplant center”. In order to ensure effective operation at the donor activation stage, registries need regulated and stable cooperation with the Collection center with a clear distribution of duties and responsibilities for both parties. Aim: to evaluate the effectiveness of the Kirov Registry.Materials and methods. Since 2009, the Kirov Registry has been systematically working with HSC donors (as of 25/11/2019, the total number of donors was 46,922, of which 43 % male, 57 % female; 49 % regular blood donors, 51 % volunteers from donor actions) since 2013. The Registry has its own Collection Center. The effectiveness of the Registry was evaluated by indicators: the number of donations, donor activation time, the number of refusals at the stages of preliminary activation and donation of cellular material. Results. As of 25/11/2019, more than 1,000 preliminary activations of potential HSC donors were performed, of which 175 were completed by collection of HSCs. The use of the created and validated activation model with the employment of the Registry and the Collection Center currently provides the following activation times: the period for sending a sample for confi rming HLA typing does not exceed 14 days; the total time to satisfy the transplant center request for cellular material does not exceed 2 months. A detailed analysis of the causes of refusals at the stages of preliminary activation and after receiving a request for the collection of cell material was carried out. Conclusion. Between 2009 and 2019 the Kirov registry has developed a model of effective work with the donors of the HSCs at all stages of the chain “Registry — HSC collection center — Transplant center”. The effectiveness of the work is confi rmed by the demand for donors, observance of the donor activation time, and a relatively low percentage of refusals from donations.
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