Bioinformatics for Next Generation Sequencing Data

Genes

Alberto Magi¹  Matteo Benelli¹  Alessia Gozzini¹  Francesca Girolami¹  Francesca Torricelli¹ 

[1] Diagnostic Genetic Unit, Careggi Hospital, Azienda Ospedaliera Universitaria Careggi, University of Florence, Florence, Italy; E-Mails:

关键词: sequencing;    data analysis;    bioinformatics  ;   

DOI  :  10.3390/genes1020294

来源: mdpi

【 摘 要 】

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.

【 授权许可】

CC BY   
© 2010 by the authors; licensee MDPI, Basel, Switzerland