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 di...

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Vydáno v:	BMC genomics Ročník 16; číslo 1; s. 286
Hlavní autoři:	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
Médium:	Journal Article
Jazyk:	angličtina
Vydáno:	London BioMed Central 11.04.2015 BioMed Central Ltd
Témata:	Analysis Animal Genetics and Genomics Biomedical and Life Sciences Computational Biology Databases, Genetic Diploidy DNA sequencing Genome, Human Genomic Structural Variation Human and rodent genomics Humans Life Sciences Microarrays Microbial Genetics and Genomics Nucleotide sequencing Plant Genetics and Genomics Political aspects Proteomics Research Article Sequence Analysis, DNA - methods Software Long-read sequencing Structural variation SV software
ISSN:	1471-2164, 1471-2164
On-line přístup:	Získat plný text
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