ToTem: a tool for variant calling pipeline optimization

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Publikace nespadá pod Lékařskou fakultu, ale pod Středoevropský technologický institut. Oficiální stránka publikace je na webu muni.cz.

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TOM Nikola TOM O. MALČÍKOVÁ Jitka PAVLOVÁ Šárka KUBEŠOVÁ Blanka RAUSCH T. KOLARIK M. BENES V. BYSTRÝ Vojtěch POSPÍŠILOVÁ Šárka

Rok publikování 2018
Druh Článek v odborném periodiku
Časopis / Zdroj BMC Bioinformatics
Fakulta / Pracoviště MU

Středoevropský technologický institut

Citace
www https://bmcbioinformatics.biomedcentral.com/track/pdf/10.1186/s12859-018-2227-x
Doi http://dx.doi.org/10.1186/s12859-018-2227-x
Klíčová slova Variant calling; Benchmarking; Next generation sequencing; Parameter optimization
Popis Background: High-throughput bioinformatics analyses of next generation sequencing (NGS) data often require challenging pipeline optimization. The key problem is choosing appropriate tools and selecting the best parameters for optimal precision and recall. Results: Here we introduce ToTem, a tool for automated pipeline optimization. ToTem is a stand-alone web application with a comprehensive graphical user interface (GUI). ToTem is written in Java and PHP with an underlying connection to a MySQL database. Its primary role is to automatically generate, execute and benchmark different variant calling pipeline settings. Our tool allows an analysis to be started from any level of the process and with the possibility of plugging almost any tool or code. To prevent an over-fitting of pipeline parameters, ToTem ensures the reproducibility of these by using cross validation techniques that penalize the final precision, recall and F-measure. The results are interpreted as interactive graphs and tables allowing an optimal pipeline to be selected, based on the user's priorities. Using ToTem, we were able to optimize somatic variant calling from ultra-deep targeted gene sequencing (TGS) data and germline variant detection in whole genome sequencing (WGS) data. Conclusions: ToTem is a tool for automated pipeline optimization which is freely available as a web application at https://totern.software
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