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Comparative analysis of de novo assemblers for variation discovery in personal genomes

Current variant discovery approaches often rely on an initial read mapping to the reference sequence. Their effectiveness is limited by the presence of gaps, potential misassemblies, regions of duplicates with a high-sequence similarity and regions of high-sequence divergence in the reference. Also,...

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Detalles Bibliográficos
Autores principales: Tian, Shulan, Yan, Huihuang, Klee, Eric W, Kalmbach, Michael, Slager, Susan L
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2017
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6169673/
https://www.ncbi.nlm.nih.gov/pubmed/28407084
http://dx.doi.org/10.1093/bib/bbx037