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Towards a comprehensive structural variation map of an individual human genome

BACKGROUND: Several genomes have now been sequenced, with millions of genetic variants annotated. While significant progress has been made in mapping single nucleotide polymorphisms (SNPs) and small (<10 bp) insertion/deletions (indels), the annotation of larger structural variants has been less...

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Detalles Bibliográficos
Autores principales: Pang, Andy W, MacDonald, Jeffrey R, Pinto, Dalila, Wei, John, Rafiq, Muhammad A, Conrad, Donald F, Park, Hansoo, Hurles, Matthew E, Lee, Charles, Venter, J Craig, Kirkness, Ewen F, Levy, Samuel, Feuk, Lars, Scherer, Stephen W
Formato: Texto
Lenguaje:English
Publicado: BioMed Central 2010
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2898065/
https://www.ncbi.nlm.nih.gov/pubmed/20482838
http://dx.doi.org/10.1186/gb-2010-11-5-r52