Literature DB >> 28369201

GenomeScope: fast reference-free genome profiling from short reads.

Gregory W Vurture1, Fritz J Sedlazeck2, Maria Nattestad1, Charles J Underwood1, Han Fang1,3, James Gurtowski1, Michael C Schatz1,2.   

Abstract

SUMMARY: GenomeScope is an open-source web tool to rapidly estimate the overall characteristics of a genome, including genome size, heterozygosity rate and repeat content from unprocessed short reads. These features are essential for studying genome evolution, and help to choose parameters for downstream analysis. We demonstrate its accuracy on 324 simulated and 16 real datasets with a wide range in genome sizes, heterozygosity levels and error rates.
AVAILABILITY AND IMPLEMENTATION: http://genomescope.org , https://github.com/schatzlab/genomescope.git . CONTACT: mschatz@jhu.edu. SUPPLEMENTARY INFORMATION: Supplementary data are available at Bioinformatics online.
© The Author (2017). Published by Oxford University Press. All rights reserved. For Permissions, please email: journals.permissions@oup.com

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Year:  2017        PMID: 28369201      PMCID: PMC5870704          DOI: 10.1093/bioinformatics/btx153

Source DB:  PubMed          Journal:  Bioinformatics        ISSN: 1367-4803            Impact factor:   6.937


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