RT Journal Article SR Electronic T1 EthSEQ: ethnicity annotation from whole exome sequencing data JF bioRxiv FD Cold Spring Harbor Laboratory SP 085837 DO 10.1101/085837 A1 Alessandro Romanel A1 Tuo Zhang A1 Olivier Elemento A1 Francesca Demichelis YR 2016 UL http://biorxiv.org/content/early/2016/11/07/085837.abstract AB Whole exome sequencing (WES) is widely utilized both in translational cancer genomics studies and in the setting of precision medicine. Stratification of individual’s ethnicity is fundamental for the correct interpretation of personal genomic variation impact. We implemented EthSEQ to provide reliable and rapid ethnicity annotation from whole exome sequencing individual’s data and validated it on 1,000 Genome Project and TCGA data demonstrating high precision (>99%). EthSEQ can be integrated into any WES based processing pipeline and exploits multi-core capabilities. Source code, manual and other data is available at http://demichelislab.unitn.it/EthSEQ.