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SeeCiTe: a method to assess CNV calls from SNP arrays using trio data

MOTIVATION: Single nucleotide polymorphism (SNP) genotyping arrays remain an attractive platform for assaying copy number variants (CNVs) in large population-wide cohorts. However, current tools for calling CNVs are still prone to extensive false positive calls when applied to biobank scale arrays....

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Detalles Bibliográficos
Autores principales:	Lavrichenko, Ksenia, Helgeland, Øyvind, Njølstad, Pål R, Jonassen, Inge, Johansson, Stefan
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Oxford University Press 2021
Materias:	Original Papers
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8317106/ https://www.ncbi.nlm.nih.gov/pubmed/33459766 http://dx.doi.org/10.1093/bioinformatics/btab028

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