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De novo assembly and genotyping of variants using colored de Bruijn graphs

Abstract:

Detecting genetic variants that are highly divergent from a reference sequence remains a major challenge in genome sequencing. We introduce de novo assembly algorithms using colored de Bruijn graphs for detecting and genotyping simple and complex genetic variants in an individual or population. We provide an efficient software implementation, Cortex, the first de novo assembler capable of assembling multiple eukaryotic genomes simultaneously. Four applications of Cortex are presented. First, ...

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Publisher copy:
10.1038/ng.1028

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Institution:
University of Oxford
Department:
Oxford, MSD, Clinical Medicine
Role:
Author
Journal:
Nature Genetics
Volume:
44
Issue:
2
Pages:
226-232
Publication date:
2012-02-05
DOI:
EISSN:
1546-1718
ISSN:
1061-4036
URN:
uuid:13201f2f-d1a3-4714-8333-1aa5ebbb2e81
Source identifiers:
313622
Local pid:
pubs:313622

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