Fast detection of de novo copy number variants from SNP arrays for case-parent trios

BACKGROUND: In studies of case-parent trios, we define copy number variants (CNVs) in the offspring that differ from the parental copy numbers as de novo and of interest for their potential functional role in disease. Among the leading array-based methods for discovery of de novo CNVs in case-parent...

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Autores principales: Scharpf, Robert B, Beaty, Terri H, Schwender, Holger, Younkin, Samuel G, Scott, Alan F, Ruczinski, Ingo
Formato: Artigo
Lenguaje:Inglês
Publicado: BioMed Central 2012
Materias:
Methodology Article
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC3576329/
https://ncbi.nlm.nih.gov/pubmed/23234608
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1471-2105-13-330
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