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

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 p...

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Bibliografiske detaljer
Main Authors: Iqbal, Zamin, Caccamo, Mario, Turner, Isaac, Flicek, Paul, McVean, Gil
Format: Artigo
Sprog:Inglês
Udgivet: 2012
Fag:
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC3272472/
https://ncbi.nlm.nih.gov/pubmed/22231483
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ng.1028
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