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Extending reference assembly models

Church, DM; Schneider, VA; Steinberg, K; Schatz, MC; Quinlan, AR; Chin, C-S; Kitts, PA; ... Flicek, P; + view all (2015) Extending reference assembly models. Genome Biology , 16 (1) , Article 13. 10.1186/s13059-015-0587-3. Green open access

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Abstract

The human genome reference assembly is crucial for aligning and analyzing sequence data, and for genome annotation, among other roles. However, the models and analysis assumptions that underlie the current assembly need revising to fully represent human sequence diversity. Improved analysis tools and updated data reporting formats are also required.

Type: Article
Title: Extending reference assembly models
Open access status: An open access version is available from UCL Discovery
DOI: 10.1186/s13059-015-0587-3
Publisher version: http://dx.doi.org/10.1186/s13059-015-0587-3
Language: English
Additional information: © 2015 The article is a work of the United States Government; Title 17 U.S.C 105 provides that copyright protection is not available for any work of the United States government in the United States; licensee BioMed Central Ltd.
UCL classification: UCL
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Medical Sciences > Cancer Institute
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Medical Sciences > Cancer Institute > Research Department of Cancer Bio
URI: https://discovery.ucl.ac.uk/id/eprint/1471767
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