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EthSEQ specifications

Information


Unique identifier OMICS_14324
Name EthSEQ
Software type Package/Module
Interface Command line interface
Restrictions to use None
Operating system Unix/Linux
Programming languages R
License MIT License
Computer skills Advanced
Version 1.0
Stability Stable
Requirements
ASEQ, EIGENSTRAT
Maintained Yes

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Maintainer


  • person_outline Francesca Demichelis

Publication for EthSEQ

EthSEQ citation

library_books

EthSEQ: ethnicity annotation from whole exome sequencing data

2017
PMCID: 5818140
PMID: 28369222
DOI: 10.1093/bioinformatics/btx165

[…] al genomic variations importance (; ; ; ). To enable effective annotation of individual’s ethnicity and improve downstream analysis and interpretation of germline and somatic variations, we developed EthSEQ, a tool that implements a rapid and reliable pipeline for ethnicity annotation from WES data. The tool can be used to annotate ethnicity of individuals with germline WES data available and can […]


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EthSEQ institution(s)
CIBIO, University of Trento, Trento, Italy; 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; Genomics Core Facility, Weill Cornell Medicine, New York, NY, USA
EthSEQ funding source(s)
This work has been supported by the Prostate Cancer Foundation Challenge Award 2014 (F.D., A.R.) and the Caryl and Israel Englander Institute for Precision Medicine, New York.

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