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Discovery, genotyping and characterization of structural variation and novel sequence at single nucleotide resolution from de novo genome assemblies on a population scale

BACKGROUND: Comprehensive recognition of genomic variation in one individual is important for understanding disease and developing personalized medication and treatment. Many tools based on DNA re-sequencing exist for identification of single nucleotide polymorphisms, small insertions and deletions...

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Detalles Bibliográficos
Autores principales: Liu, Siyang, Huang, Shujia, Rao, Junhua, Ye, Weijian, Krogh, Anders, Wang, Jun
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2015
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4690232/
https://www.ncbi.nlm.nih.gov/pubmed/26705468
http://dx.doi.org/10.1186/s13742-015-0103-4