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LUMPY: a probabilistic framework for structural variant discovery

Comprehensive discovery of structural variation (SV) from whole genome sequencing data requires multiple detection signals including read-pair, split-read, read-depth and prior knowledge. Owing to technical challenges, extant SV discovery algorithms either use one signal in isolation, or at best use...

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Detalles Bibliográficos
Autores principales: Layer, Ryan M, Chiang, Colby, Quinlan, Aaron R, Hall, Ira M
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2014
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4197822/
https://www.ncbi.nlm.nih.gov/pubmed/24970577
http://dx.doi.org/10.1186/gb-2014-15-6-r84