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

被引：51

作者：

Graw, Stefan ^{[1
,6
]}

Meier, Richard ^{[1
,6
]}

Minn, Kay ^{[1
]}

Bloomer, Clark ^{[2
]}

Godwin, Andrew K. ^{[3
]}

Fridley, Brooke ^{[4
]}

Vlad, Anda ^{[5
]}

Beyerlein, Peter ^{[6
]}

Chien, Jeremy ^{[1
]}

机构：

[1] Univ Kansas, Med Ctr, Dept Canc Biol, Kansas City, KS 66160 USA

[2] Univ Kansas, Med Ctr, Dept Lab Med & Pathol, Kansas City, KS 66160 USA

[3] Univ Kansas, Med Ctr, Genome Sequencing Facil, Kansas City, KS 66160 USA

[4] Univ Kansas, Med Ctr, Dept Biostat, Kansas City, KS 66160 USA

[5] Univ Pittsburgh, Dept Obstet Gynecol & Reprod Sci, Pittsburgh, PA 15260 USA

[6] Tech Univ Appl Sci Wildau, Dept Bioinformat & Biosyst Technol, D-15745 Wildau, Germany

来源：

SCIENTIFIC REPORTS | 2015年 / 5卷

关键词：

CANCER; IDENTIFICATION; ALIGNMENT; GENOMES; TISSUES;

D O I：

10.1038/srep12335

中图分类号：

O [数理科学和化学]; P [天文学、地球科学]; Q [生物科学]; N [自然科学总论];

学科分类号：

07 ; 0710 ; 09 ;

摘要：

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.

引用

页数：11

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