Fine-scale structural variation of the human genome

By Eray Tüzün, A. Sharp, J. Bailey, R. Kaul, V. A. Morrison, Lisa M. Pertz, E. Haugen, H. Hayden, Donna Albertson, Dan Pinkel and 2 more. Nature Genetics, 2005

1,086 citations recorded by the source corpus.

Subfields: Accounting, Strategy and Management

View Paper: https://www.semanticscholar.org/paper/8ecd33733f5b1169fb5f17437711c329fbdfaf37

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Citations in the corpus

SvABA: genome-wide detection of structural variants and indels by local assembly (2018, background): “…SvABA draws from the fusing and refactoring of several well-established C andC++tools(SGA,htslib,BWA-MEM)intoa single unified process, enabling in-memory manipulation of objects representing sequences, alignments, and assemblies with a minimal RAM and I/O footprint (Wala and Beroukhim 2017).”
Segmental duplications and copy-number variation in the human genome. (2005, background): “Our Structural Variation Database (see Web Resources) includes an additional 297 sites of fine-scale variation (resolution ∼8 kb) identified by fosmid paired-end sequence analysis (Tuzun et al. 2005), including sites of inversion not detectable by array-based approaches, as well as CNPs identified i”
Computational methods for discovering structural variation with next-generation sequencing (2009, neutral): “1374" language="eng" publish="supp" relation="no"> The discovery of structural variatio”
Copy number variation: new insights in genome diversity. (2006, methodology): “Following these two initial studies, Tuzun et al. (2005) used an in silico strategy to compare two human genomes at the DNA sequence level.”
Personalized Copy-Number and Segmental Duplication Maps using Next-Generation Sequencing (2009, neutral): “Even sequence-based strategies such as paired-end mapping 16,17 frequently fail to unambiguously assign end-sequences in duplicated regions, making it impossible to distinguish allelic and paralogous variation.”
De novo assembly and genotyping of variants using colored de Bruijn graphs (2012, methodology): “This approach has proven powerful in the study of SNPs 6 , short insertion-deletion (indel) polymorphisms 3,5,7,8 and larger structural variation 9–14 in well-characterized genomes, such as the human genome 15–17 .”
BreakDancer: An algorithm for high resolution mapping of genomic structural variation (2009, positive): “The confidence score we derived to prioritize BreakDancerMax predictions (Online Methods) demonstrated improved statistical properties when compared to simply using the number of anomalously mapped read pairs, which remains the de facto standard metri”
Human genetic variation and its contribution to complex traits (2009, background): “Compared with single nucleotide variants, the technological ability to detect structural variants in the human genome has only recently emerge”
Sensitive and accurate detection of copy number variants using read depth of coverage. (2009, background): “unique locations in the genome (Tuzun et al. 2005).”
The UCSC Genome Browser Database: update 2006 (2005, background): “A new track in human (July 2003 assembly) shows putative copy number polymorphisms collected from four separate studies (49–52).”