RESUMEN
Despite genomic sequencing rapidly transforming from being a bench-side tool to a routine procedure in a hospital, there is a noticeable lack of genomic analysis software that supports both clinical and research workflows as well as crowdsourcing. Furthermore, most existing software packages are not forward-compatible in regards to supporting ever-changing diagnostic rules adopted by the genetics community. Regular updates of genomics databases pose challenges for reproducible and traceable automated genetic diagnostics tools. Lastly, most of the software tools score low on explainability amongst clinicians. We have created a fully open-source variant curation tool, AnFiSA, with the intention to invite and accept contributions from clinicians, researchers, and professional software developers. The design of AnFiSA addresses the aforementioned issues via the following architectural principles: using a multidimensional database management system (DBMS) for genomic data to address reproducibility, curated decision trees adaptable to changing clinical rules, and a crowdsourcing-friendly interface to address difficult-to-diagnose cases. We discuss how we have chosen our technology stack and describe the design and implementation of the software. Finally, we show in detail how selected workflows can be implemented using the current version of AnFiSA by a medical geneticist.
Asunto(s)
Genómica , Programas Informáticos , Biología Computacional/métodos , Sistemas de Administración de Bases de Datos , Bases de Datos Genéticas , Genómica/métodos , Reproducibilidad de los Resultados , Flujo de TrabajoRESUMEN
In experiments on mice it has been found that radioprotective effect of cystamin used in a doze 0.15 mg/kg reveals only at its dissolution in a physiological solution, and it is not found out at dissolution of a preparation in distilled water.