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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...

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Detalles Bibliográficos
Autores principales: Legault, Marc-André, Girard, Simon, Lemieux Perreault, Louis-Philippe, Rouleau, Guy A., Dubé, Marie-Pierre
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2015
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