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Detecting copy number variation with mated short reads

The development of high-throughput sequencing (HTS) technologies has opened the door to novel methods for detecting copy number variants (CNVs) in the human genome. While in the past CNVs have been detected based on array CGH data, recent studies have shown that depth-of-coverage information from HT...

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Detalles Bibliográficos
Main Authors: Medvedev, Paul, Fiume, Marc, Dzamba, Misko, Smith, Tim, Brudno, Michael
Formato: Artigo
Idioma:Inglês
Publicado: Cold Spring Harbor Laboratory Press 2010
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Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC2963824/
https://ncbi.nlm.nih.gov/pubmed/20805290
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1101/gr.106344.110
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