Robust identification of deletions in exome and genome sequence data based on clustering of Mendelian errors

Multiple tools have been developed to identify copy number variants (CNVs) from whole exome (WES) and whole genome sequencing (WGS) data. Current tools such as XHMM for WES and CNVnator for WGS identify CNVs based on changes in read depth. For WGS, other methods to identify CNVs include utilizing di...

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Publicado en:Hum Mutat
Main Authors: Manheimer, Kathryn B., Patel, Nihir, Richter, Felix, Gorham, Joshua, Tai, Angela C., Homsy, Jason, Boskovski, Marko T., Parfenov, Michael, Goldmuntz, Elizabeth, Chung, Wendy K., Brueckner, Martina, Tristani-Firouzi, Martin, Srivastava, Deepak, Seidman, Jonathan G., Seidman, Christine E., Gelb, Bruce D., Sharp, Andrew J.
Formato: Artigo
Idioma:Inglês
Publicado: 2018
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Article
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC6022753/
https://ncbi.nlm.nih.gov/pubmed/29527824
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.23419
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