PT - JOURNAL ARTICLE AU - Zeynep Kalender Atak AU - Ibrahim Ihsan Taskiran AU - Christopher Flerin AU - David Mauduit AU - Liesbeth Minnoye AU - Gert Hulsemans AU - Valerie Christiaens AU - Ghanem-Elias Ghanem AU - Jasper Wouters AU - Stein Aerts TI - Prioritization of enhancer mutations by combining allele-specific chromatin accessibility with deep learning AID - 10.1101/2019.12.21.885806 DP - 2019 Jan 01 TA - bioRxiv PG - 2019.12.21.885806 4099 - http://biorxiv.org/content/early/2019/12/23/2019.12.21.885806.short 4100 - http://biorxiv.org/content/early/2019/12/23/2019.12.21.885806.full AB - Prioritization of non-coding genome variation benefits from explainable AI to predict and interpret the impact of a mutation on gene regulation. Here we apply a specialized deep learning model to phased melanoma genomes and identify functional enhancer mutations with allelic imbalance of chromatin accessibility and gene expression.