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Comparison of Sequencing Based CNV Discovery Methods Using Monozygotic Twin Quartets
BACKGROUND: The advent of high throughput sequencing methods breeds an important amount of technical challenges. Among those is the one raised by the discovery of copy-number variations (CNVs) using whole-genome sequencing data. CNVs are genomic structural variations defined as a variation in the nu...
Autores principales: | Legault, Marc-André, Girard, Simon, Lemieux Perreault, Louis-Philippe, Rouleau, Guy A., Dubé, Marie-Pierre |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Public Library of Science
2015
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4374778/ https://www.ncbi.nlm.nih.gov/pubmed/25812131 http://dx.doi.org/10.1371/journal.pone.0122287 |
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