Read count approach for DNA copy number variants detection | Zendy

Alberto Magi | Zendy; Lorenzo Tattini | Zendy; Tommaso Pippucci | Zendy; Francesca Torricelli | Zendy; Matteo Benelli | Zendy

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Read count approach for DNA copy number variants detection

Author(s) -

Alberto Magi,

Lorenzo Tattini,

Tommaso Pippucci,

Francesca Torricelli,

Matteo Benelli

Publication year - 2011

Publication title -

bioinformatics

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 3.599

H-Index - 390

eISSN - 1367-4811

pISSN - 1367-4803

DOI - 10.1093/bioinformatics/btr707

Subject(s) - copy number variation , computer science , count data , computational biology , dna , genetics , biology , gene , statistics , genome , mathematics , poisson distribution

The advent of high-throughput sequencing technologies is revolutionizing our ability in discovering and genotyping DNA copy number variants (CNVs). Read count-based approaches are able to detect CNV regions with an unprecedented resolution. Although this computational strategy has been recently introduced in literature, much work has been already done for the preparation, normalization and analysis of this kind of data.

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