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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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Detalles Bibliográficos
Autores principales: Iqbal, Zamin, Caccamo, Mario, Turner, Isaac, Flicek, Paul, McVean, Gil
Formato: Online Artículo Texto
Lenguaje:English
Publicado: 2012
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3272472/
https://www.ncbi.nlm.nih.gov/pubmed/22231483
http://dx.doi.org/10.1038/ng.1028