Towards a Comprehensive Catalog of Human Genes Associated with Main Forms of Pathozoospermia and its Functional Annotation

Poster (download) Elena V. Ignatieva1, Alexander V. Osadchuk2, Maxim A Kleshev3, Ludmila V. Osadchuk41The Federal Research Center Institute of Cytology and Genetics, SB RAS, eignat@bionet.nsc.ru2The Federal Research Center Institute of Cytology and Genetics, SB RAS, osadchuk@bionet.nsc.ru3The Federal Research Center Institute of Cytology and Genetics, SB RAS, max82cll@bionet.nsc.ru4The Federal Research Center Institute of Cytology and Genetics, SB RAS, losadch@bionet.nsc.ru The genetic causes of the global decline in male fertility is among the hot spots of scientific research in reproductive genetics. The most common way to evaluate male fertility in clinical trials is to determine the quality of the ejaculate. A pathological condition characterized by lower quality indicators of the ejaculate compared to the norm and leading to impaired fertility is called pathozoospermia. Pathozoospermia is a syndrome that occurs in many diseases and can be caused by many factors, including genetic ones. To systematize information about genes associated with main forms of pathozoospermia, we created a catalog of such genes and analyzed their functional characteristics. On the basis of a manual analysis of scientific publications we collected data on 70 genes harboring more than one hundred allelic variants associated with pathozoospermia. Gene ontology enrichment analysis revealed that genes were significantly associated with spermatogenesis and male gamete generation. In addition it was found that genes from the catalog were associated with more than seventy human diseases that were both reproductive system pathologies and others, such as Parkinson\’s and Alzheimer\’s diseases as well as various cancer types.

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High performance pipeline for the calculation of Polygenic Risk Scores

Poster (download) Video (download) Arina Nostaeva1, Tatiana Shashkova2, Sodbo Sharapov3, Yakov Tsepilov4, Yurii Aulchenko5, Lennart C. Karssen61Laboratory of Recombination and Segregation Analysis, Institute of Cytology and Genetics, Novosibirsk, Russia, avnostaeva@gmail.com2Laboratory of Recombination and Segregation Analysis, Institute of Cytology and Genetics, Novosibirsk, Russia, shashkova@phystech.edu3Laboratory of Recombination and Segregation Analysis, Institute of Cytology and Genetics, Novosibirsk, Russia, sharapovsodbo@gmail.com4Laboratory of Recombination and Segregation Analysis, Institute of Cytology and Genetics, Novosibirsk, Russia, drosophila.simulans@gmail.com5Laboratory of Recombination and Segregation Analysis, Institute of Cytology and Genetics, Novosibirsk, Russia, yurii.aulchenko@gmail.com6PolyKnomics, ’s-Hertogenbosch, The Netherlands, l.c.karssen@polyknomics.com A polygenic risk score (PRS) is a value that reflects a person’s predisposition to a disease or any other trait which can (partly) be explained by genetic inheritance. PRSs are often used in reports provided by genetic testing companies like 23andMe, Genotek, etc. Another way of using PRSs is to look at the distribution of PRS values for a group of people and compare them, for example, in a case-control study to find case-dependent traits. PRS models are usually based on summary statistics data from genome-wide association studies (GWAS) and take into account the linkage disequilibrium (LD) structure. We have created a pipeline for high performance PRS calculations across many traits present in the GWAS-MAP platform. The pipeline only requires individual-level data and provides the ability to select a list of traits. This pipeline will be helpful for scientific groups, working with large amounts of individual genotype data, as well as for individuals with their own personal genotype data.

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Development of a database on radioresistant microorganisms as a useful tool for biotechnology.

Alina Ryabova1, Azat Kadirov2, Elena Shagimardanova31KFU, Kazan, Russia, urban-nomad@yandex.ru2KFU, Kazan, Russia, bilinet@mail.ru3KFU, Kazan, Russia; NSU, Novosibirsk, Russia, rjuka@mail.ru Mechanisms of prokaryotic radioresistance are an essential subject in radiation biology. We designed a specialized database aimed at making a comprehensive repository of identified radioresistant microorganisms with experimentally confirmed data.

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