[HTML][HTML] Robust gene expression and mutation analyses of RNA-sequencing of formalin-fixed diagnostic tumor samples

S Graw, R Meier, K Minn, C Bloomer, AK Godwin… - Scientific reports, 2015 - nature.com
Scientific reports, 2015nature.com
Current genomic studies are limited by the availability of fresh tissue samples. Here, we
show that Illumina RNA sequencing of formalin-fixed diagnostic tumor samples produces
gene expression that is strongly correlated with matched frozen tumor samples (r> 0.89). In
addition, sequence variations identified from FFPE RNA show 99.67% concordance with
that from exome sequencing of matched frozen tumor samples. Because FFPE is a routine
diagnostic sample preparation, the feasibility results reported here will facilitate the setup of …
Abstract
Current genomic studies are limited by the availability of fresh tissue samples. Here, we show that Illumina RNA sequencing of formalin-fixed diagnostic tumor samples produces gene expression that is strongly correlated with matched frozen tumor samples (r > 0.89). In addition, sequence variations identified from FFPE RNA show 99.67% concordance with that from exome sequencing of matched frozen tumor samples. Because FFPE is a routine diagnostic sample preparation, the feasibility results reported here will facilitate the setup of large-scale research and clinical studies in medical genomics that are currently limited by the availability of fresh frozen samples.
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