Assessing structural variation in a personal genome—towards a human reference diploid genome

BACKGROUND: Characterizing large genomic variants is essential to expanding the research and clinical applications of genome sequencing. While multiple data types and methods are available to detect these structural variants (SVs), they remain less characterized than smaller variants because of SV d...

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Detalles Bibliográficos
Autores principales: English, Adam C, Salerno, William J, Hampton, Oliver A, Gonzaga-Jauregui, Claudia, Ambreth, Shruthi, Ritter, Deborah I, Beck, Christine R, Davis, Caleb F, Dahdouli, Mahmoud, Ma, Singer, Carroll, Andrew, Veeraraghavan, Narayanan, Bruestle, Jeremy, Drees, Becky, Hastie, Alex, Lam, Ernest T, White, Simon, Mishra, Pamela, Wang, Min, Han, Yi, Zhang, Feng, Stankiewicz, Pawel, Wheeler, David A, Reid, Jeffrey G, Muzny, Donna M, Rogers, Jeffrey, Sabo, Aniko, Worley, Kim C, Lupski, James R, Boerwinkle, Eric, Gibbs, Richard A
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2015
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4490614/
https://www.ncbi.nlm.nih.gov/pubmed/25886820
http://dx.doi.org/10.1186/s12864-015-1479-3

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