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Human copy number variants are enriched in regions of low mappability

Copy number variants (CNVs) are known to affect a large portion of the human genome and have been implicated in many diseases. Although whole-genome sequencing (WGS) can help identify CNVs, most analytical methods suffer from limited sensitivity and specificity, especially in regions of low mappabil...

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Detalles Bibliográficos
Autores principales:	Monlong, Jean, Cossette, Patrick, Meloche, Caroline, Rouleau, Guy, Girard, Simon L, Bourque, Guillaume
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Oxford University Press 2018
Materias:	Genomics
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6101599/ https://www.ncbi.nlm.nih.gov/pubmed/30137632 http://dx.doi.org/10.1093/nar/gky538

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