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Read count approach for DNA copy number variants detection.
Magi A, Tattini L, Pippucci T, Torricelli F, Benelli M. Magi A, et al. Among authors: torricelli f. Bioinformatics. 2012 Feb 15;28(4):470-8. doi: 10.1093/bioinformatics/btr707. Epub 2011 Dec 23. Bioinformatics. 2012. PMID: 22199393
A very fast and accurate method for calling aberrations in array-CGH data.
Benelli M, Marseglia G, Nannetti G, Paravidino R, Zara F, Bricarelli FD, Torricelli F, Magi A. Benelli M, et al. Among authors: torricelli f. Biostatistics. 2010 Jul;11(3):515-8. doi: 10.1093/biostatistics/kxq008. Epub 2010 Mar 5. Biostatistics. 2010. PMID: 20207682
Bioinformatics for next generation sequencing data.
Magi A, Benelli M, Gozzini A, Girolami F, Torricelli F, Brandi ML. Magi A, et al. Among authors: torricelli f. Genes (Basel). 2010 Sep 14;1(2):294-307. doi: 10.3390/genes1020294. Genes (Basel). 2010. PMID: 24710047 Free PMC article.
EX-HOM (EXome HOMozygosity): a proof of principle.
Pippucci T, Benelli M, Magi A, Martelli PL, Magini P, Torricelli F, Casadio R, Seri M, Romeo G. Pippucci T, et al. Among authors: torricelli f. Hum Hered. 2011;72(1):45-53. doi: 10.1159/000330164. Epub 2011 Aug 18. Hum Hered. 2011. PMID: 21849793 Free article.
A Systematic Assessment of Accuracy in Detecting Somatic Mosaic Variants by Deep Amplicon Sequencing: Application to NF2 Gene.
Contini E, Paganini I, Sestini R, Candita L, Capone GL, Barbetti L, Falconi S, Frusconi S, Giotti I, Giuliani C, Torricelli F, Benelli M, Papi L. Contini E, et al. Among authors: torricelli f. PLoS One. 2015 Jun 12;10(6):e0129099. doi: 10.1371/journal.pone.0129099. eCollection 2015. PLoS One. 2015. PMID: 26066488 Free PMC article.
Novel α-actinin 2 variant associated with familial hypertrophic cardiomyopathy and juvenile atrial arrhythmias: a massively parallel sequencing study.
Girolami F, Iascone M, Tomberli B, Bardi S, Benelli M, Marseglia G, Pescucci C, Pezzoli L, Sana ME, Basso C, Marziliano N, Merlini PA, Fornaro A, Cecchi F, Torricelli F, Olivotto I. Girolami F, et al. Among authors: torricelli f. Circ Cardiovasc Genet. 2014 Dec;7(6):741-50. doi: 10.1161/CIRCGENETICS.113.000486. Epub 2014 Aug 30. Circ Cardiovasc Genet. 2014. PMID: 25173926
345 results