TY - JOUR A1 - Graw, Stefan A1 - Meier, Richard A1 - Minn, Kay A1 - Bloomer, Clark A1 - Godwin, Andrew K. A1 - Fridley, Brooke A1 - Vlad, Anda A1 - Beyerlein, Peter A1 - Chien, Jeremy T1 - Robust gene expression and mutation analyses of RNA-sequencing of formalin-fixed diagnostic tumor samples JF - Scientific Reports N2 - 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. Y1 - 2015 U6 - http://nbn-resolving.de/urn/resolver.pl?urn:nbn:de:kobv:526-opus4-6319 SN - 2045-2322 VL - 5 ER - TY - JOUR A1 - Meier, Richard A1 - Graw, Stefan A1 - Beyerlein, Peter A1 - Koestler, Devin A1 - Molina, Julian R. A1 - Chien, Jeremy T1 - digit—a tool for detection and identification of genomic interchromosomal translocations JF - Nucleic Acids Research N2 - Structural variations (SVs) in genomic DNA can have profound effects on the evolution of living organisms, on phenotypic variations and on disease processes. A critical step in discovering the full extent of structural variations is the development of tools to characterize these variations accurately in next generation sequencing data. Toward this goal, we developed a software pipeline named digit that implements a novel measure of mapping ambiguity to discover interchromosomal SVs from mate-pair and pair-end sequencing data. The workflow robustly handles the high numbers of artifacts present in mate-pair sequencing and reduces the false positive rate while maintaining sensitivity. In the simulated data set, our workflow recovered 96% of simulated SVs. It generates a self-updating library of common translocations and allows for the investigation of patient- or group-specific events, making it suitable for discovering and cataloging chromosomal translocations associated with specific groups, traits, diseases or population structures. Y1 - 2017 U6 - http://nbn-resolving.de/urn/resolver.pl?urn:nbn:de:kobv:526-opus4-9697 SN - 1362-4962 VL - 45 IS - 9 SP - e72 ER -