- 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, ...
Expand abstract - Publisher copy:
- 10.1038/ng.1028
-
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- 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
- Copyright date:
- 2012
Journal article
De novo assembly and genotyping of variants using colored de Bruijn graphs
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