DNA copy number analysis of fresh and formalin-fixed specimens by shallow whole-genome sequencing with identification and exclusion of problematic regions in the genome assembly

Detection of DNA copy number aberrations by shallow whole-genome sequencing (WGS) faces many challenges, including lack of completion and errors in the human reference genome, repetitive sequences, polymorphisms, variable sample quality, and biases in the sequencing procedures. Formalin-fixed paraff...

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Detalles Bibliográficos
Autores principales: Scheinin, Ilari, Sie, Daoud, Bengtsson, Henrik, van de Wiel, Mark A., Olshen, Adam B., van Thuijl, Hinke F., van Essen, Hendrik F., Eijk, Paul P., Rustenburg, François, Meijer, Gerrit A., Reijneveld, Jaap C., Wesseling, Pieter, Pinkel, Daniel, Albertson, Donna G., Ylstra, Bauke
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cold Spring Harbor Laboratory Press 2014
Materias:
Method
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4248318/
https://www.ncbi.nlm.nih.gov/pubmed/25236618
http://dx.doi.org/10.1101/gr.175141.114

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