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Comprehensive evaluation of structural variation detection algorithms for whole genome sequencing

BACKGROUND: Structural variations (SVs) or copy number variations (CNVs) greatly impact the functions of the genes encoded in the genome and are responsible for diverse human diseases. Although a number of existing SV detection algorithms can detect many types of SVs using whole genome sequencing (W...

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Detalles Bibliográficos
Autores principales:	Kosugi, Shunichi, Momozawa, Yukihide, Liu, Xiaoxi, Terao, Chikashi, Kubo, Michiaki, Kamatani, Yoichiro
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2019
Materias:	Research
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6547561/ https://www.ncbi.nlm.nih.gov/pubmed/31159850 http://dx.doi.org/10.1186/s13059-019-1720-5

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