Semantic-enabled hybrid genetic disease diagnostics in Next-Generation Sequenced data

Next Generation Sequencing is a technology for genome sequencing used in genetics for the diagnosis of disease. NGS provides a list of all mutations in a genome, so identifying the one that causes a disease is not trivial. A number of applications for variant prioritization were developed, but the data they provide is a suggestion rather than a diagnosis; moreover, they sufer from issues such as identifying a nonpathogenic variant as a causal one or the inability to identify a causal gene. These issues inspired us to create a strategy for variant prioritization, which includes the use of the Exomiser and OMIM Explorer result sets improved by semantic analysis of abstracts and articles freely available from the PubMed and PubMed Central databases. For the wider scope of scientific articles, the Google Scholar repository will be used. The described approach enables us to present the latest and most accurate information about potential pathogenic variants

Semantic-enabled hybrid genetic disease diagnostics in Next-Generation Sequenced data

Next Generation Sequencing is a technology for genome sequencing used in genetics for the diagnosis of disease. NGS provides a list of all mutations in a genome, so identifying the one that causes a disease is not trivial. A number of applications for variant prioritization were developed, but the data they provide is a suggestion rather than a diagnosis; moreover, they sufer from issues such as identifying a nonpathogenic variant as a causal one or the inability to identify a causal gene. These issues inspired us to create a strategy for variant prioritization, which includes the use of the Exomiser and OMIM Explorer result sets improved by semantic analysis of abstracts and articles freely available from the PubMed and PubMed Central databases. For the wider scope of scientific articles, the Google Scholar repository will be used. The described approach enables us to present the latest and most accurate information about potential pathogenic variants

Turystyka uzdrowiskowa w Polsce i na świecie - perspektywy rozwoju Spa i Wellness w Polsce

W ostatnich latach nastąpił szybki wzrost zapotrzebowania na tzw. "zdrowy tryb życia", dbałość o własny wygląd i walkę z objawami starzenia się organizmu. Współczesny człowiek żyje intensywnie i równie intensywnie zabiega o regenerowanie swojego organizmu. W skali światowej rysują się dwa modele uzdrowisk: europejskie kurorty nawiązując do tradycyjnej turystyki uzdrowiskowej propagują przede wszystkim model leczniczo-profilaktyczny. Jednak coraz częściej poszerzają swoje oferty w kierunku szeroko rozumianej rekreacji oraz funkcji wypoczynkowej turystyki. Stają się modne miejsca SPA&Wellness łączące zabiegi wodne, głównie ciepłe wody z harmonią ducha jak uprawianie yoga, medytacje i wyciszanie codziennego zgiełku na który każdy jest narażony. Ze względu na klimat i zasoby wód ciepłych, w Polsce istnieją dogodne warunki rozwoju nowoczesnych SPA, a zatem turystyki zdrowotnej.During the last years there has been noted the increase interest in improving health conditions in specific SPA. In Europe exist traditional old SPA's which offer various mineral therapies. The SPA places develop according to the demand for the recreation activities. The new way of the therapy is SPA&Wellness which offer different water treatment and also quite environment which offer harmony with the mind and body