bioinformatics for next generation sequencing data新一代测序数据的生物信息学.pdf

Genes 2010, 1, 294-307; doi:10.3390/genes1020294 OPEN ACCESS genes ISSN 2073-4425 /journal/genes Review Bioinformatics for Next Generation Sequencing Data Alberto Magi 1,2,3,*,†, Matteo Benelli 1,2,4,†, Alessia Gozzini 1, Francesca Girolami 1, Francesca Torricelli 1 and Maria Luisa Brandi 5 1 Diagnostic Genetic Unit, Careggi Hospital, Azienda Ospedaliera Universitaria Careggi, University of Florence, Florence, Italy; E-Mails: matteo.benelli@ (M.B.); gozzinial@aou-careggi.toscana.it (A.G.); girolamif@aou-careggi.toscana.it (F.G.); torricellif@aou-careggi.toscana.it (F.T.) 2 Center for the Study of Complex Dynamics, University of Florence, Florence, Italy 3 Surgical Critical Care, University of Florence, Florence, Italy 4 INFN, Sezione di Firenze, Firenze, Italy 5 Department of Internal Medicine, University of Florence Medical School, Florence, Italy; E-Mail: m.brandi@dmi.unifi.it † These authors contributed equally to this work. * Author to whom correspondence should be addressed; E-Mail: albertomagi@. Received: 27 July 2010; in revised form: 30 August 2010 / Accepted: 14 September 2010 / Published: 14 September 2010 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