| Title | EthSEQ: ethnicity annotation from whole exome sequencing data. |
| Publication Type | Journal Article |
| Year of Publication | 2017 |
| Authors | Romanel A, Zhang T, Elemento O, Demichelis F |
| Journal | Bioinformatics |
| Volume | 33 |
| Issue | 15 |
| Pagination | 2402-2404 |
| Date Published | 2017 Aug 01 |
| ISSN | 1367-4811 |
| Keywords | Genetics, Population, Genomics, Humans, Molecular Sequence Annotation, Population Groups, Software, Whole Exome Sequencing |
| Abstract | Summary: 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. Availability and Implementation: R package available at github.com/aromanel/EthSEQ and CRAN repository. Contact: alessandro.romanel@unitn.it or f.demichelis@unitn.it. Supplementary information: Supplementary data are available at Bioinformatics online. |
| DOI | 10.1093/bioinformatics/btx165 |
| Alternate Journal | Bioinformatics |
| PubMed ID | 28369222 |
| PubMed Central ID | PMC5818140 |
| Grant List | 648670 / / European Research Council / International |