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Preprint

Strand Orientation Bias Detector (SOBDetector) to remove FFPE sequencing artifacts

Miklós DióssyiD, Zsófia M. SztupinszkiiD, Marcin KrzystanekiD, Judit Borcsok, Aron C. EklundiD, István CsabaiiD, Anders Gorm PederseniD, Zoltán SzállásiiD

Abstract

Formalin-fixed paraffin-embedded (FFPE) tissue, the most common tissue specimen stored in clinical practice, presents challenges in the analysis due to formalin-induced artifacts. Here we present SOBDetector, that is designed to remove these artifacts from a list of variants, which were extracted from next-generation sequencing data, using the posterior predictive distribution of a Bayesian logistic regression model trained on TCGA whole exomes. Based on a concordance analysis, SOBDetector outperforms the currently publicly available FFPE-filtration techniques (Accuracy: 0.9 {+/-} 0.015, AUC = 0.96). SOBDetector is implemented in Java 1.8 and is freely available online.

02 /Specification & Classification

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