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Diagnostic Genetic Unit, Careggi Hospital, Azienda Ospedaliera Universitaria Careggi, University of Florence, Florence, Italy


Center for the Study of Complex Dynamics, University of Florence, Florence, Italy


Surgical Critical Care, University of Florence, Florence, Italy


INFN, Sezione di Firenze, Firenze, Italy


Department of Internal Medicine, University of Florence Medical School, Florence, Italy

These authors contributed equally to this work.


Author to whom correspondence should be addressed.

Abstract The emergence of next-generation sequencing NGS platforms imposes increasing demands on statistical methods and bioinformatic tools for the analysis and the management of the huge amounts of data generated by these technologies. Even at the early stages of their commercial availability, a large number of softwares already exist for analyzing NGS data. These tools can be fit into many general categories including alignment of sequence reads to a reference, base-calling and-or polymorphism detection, de novo assembly from paired or unpaired reads, structural variant detection and genome browsing. This manuscript aims to guide readers in the choice of the available computational tools that can be used to face the several steps of the data analysis workflow. View Full-Text

Keywords: sequencing; data analysis; bioinformatics sequencing; data analysis; bioinformatics

Author: Alberto Magi 1,2,3,†,* , Matteo Benelli 1,2,4,†, Alessia Gozzini 1, Francesca Girolami 1, Francesca Torricelli 1 and Maria Luisa Brandi 5



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