title: EthSEQ: ethnicity annotation from whole exome sequencing data.
abstract: CONCLUSIONS
  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, validated it on 1000 Genome Project and TCGA data (2700 samples) demonstrating high precision, and finally assessed computational performances compared to other tools. EthSEQ can be integrated into any WES based processing pipeline and exploits multi-core capabilities.
  
  
  METHODS
  R package available at github.com/aromanel/EthSEQ and CRAN repository.
  
  
  BACKGROUND
  alessandro.romanel@unitn.it or f.demichelis@unitn.it.
  
  
  BACKGROUND
  Supplementary data are available at Bioinformatics online.
authors.affiliation: CIBIO, University of Trento, Trento, Italy.
authors.forename: Alessandro
authors.initials: A
authors.lastname: Romanel
authors.affiliation: Caryl and Israel Englander Institute for Precision Medicine, New York Presbyterian Hospital-Weill Cornell Medicine, New York, NY, USA.|Genomics Core Facility.
authors.forename: Tuo
authors.initials: T
authors.lastname: Zhang
authors.affiliation: Caryl and Israel Englander Institute for Precision Medicine, New York Presbyterian Hospital-Weill Cornell Medicine, New York, NY, USA.|Institute for Computational Biomedicine, Weill Cornell Medicine, New York, NY, USA.
authors.forename: Olivier
authors.initials: O
authors.lastname: Elemento
authors.affiliation: CIBIO, University of Trento, Trento, Italy.|Institute for Computational Biomedicine, Weill Cornell Medicine, New York, NY, USA.
authors.forename: Francesca
authors.initials: F
authors.lastname: Demichelis
mesh_terms: D005828:Genetics, Population / Q000379:methods; D023281:Genomics / Q000379:methods; D006801:Humans; D058977:Molecular Sequence Annotation / Q000379:methods*; D044382:Population Groups; D012984:Software; D000073359:Exome Sequencing / Q000379:methods*