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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發表在:Genome Res
Main Authors: 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
格式: Artigo
語言:Inglês
出版: Cold Spring Harbor Laboratory Press 2014
主題:
Method
在線閱讀:https://ncbi.nlm.nih.gov/pmc/articles/PMC4248318/
https://ncbi.nlm.nih.gov/pubmed/25236618
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1101/gr.175141.114
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