EthSEQ: ethnicity annotation from whole exome sequencing data
EthSEQ: ethnicity annotation from whole exome sequencing data
Abstract 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.
Zhang Tuo、Demichelis Francesca、Romanel Alessandro、Elemento Olivier
Caryl and Israel Englander Institute for Precision Medicine||Genomics Core Facility, Weill Cornell MedicineCIBIO, University of Trento||Caryl and Israel Englander Institute for Precision Medicine||Institute for Computational Biomedicine, Weill Cornell MedicineCIBIO, University of TrentoCaryl and Israel Englander Institute for Precision Medicine||Institute for Computational Biomedicine, Weill Cornell Medicine
生物科学研究方法、生物科学研究技术肿瘤学基础医学
Zhang Tuo,Demichelis Francesca,Romanel Alessandro,Elemento Olivier.EthSEQ: ethnicity annotation from whole exome sequencing data[EB/OL].(2025-03-28)[2025-08-14].https://www.biorxiv.org/content/10.1101/085837.点此复制
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