Wham: Identifying Structural Variants of Biological Consequence

Existing methods for identifying structural variants (SVs) from short read datasets are inaccurate. This complicates disease-gene identification and efforts to understand the consequences of genetic variation. In response, we have created Wham (Whole-genome Alignment Metrics) to provide a single, in...

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Publicat a:PLoS Comput Biol
Autors principals: Kronenberg, Zev N., Osborne, Edward J., Cone, Kelsey R., Kennedy, Brett J., Domyan, Eric T., Shapiro, Michael D., Elde, Nels C., Yandell, Mark
Format: Artigo
Idioma:Inglês
Publicat: Public Library of Science 2015
Matèries:
Research Article
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC4666669/
https://ncbi.nlm.nih.gov/pubmed/26625158
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pcbi.1004572
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