ArticleBMC bioinformatics2016
Representing and decomposing genomic structural variants as balanced integer flows on sequence graphs.
Article in BMC bioinformatics, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
4 citing papers in PubMed.
- Reconstruction of clone- and haplotype-specific cancer genome karyotypes from bulk tumor samples.Genome research · 2020Article
- Toward Recovering Allele-specific Cancer Genome Graphs.Journal of computational biology : a journal of computational molecular cell biology · 2018Article
- Modeling cancer rearrangement landscapes.Current opinion in systems biology · 2017Article
- Alternate-locus aware variant calling in whole genome sequencing.Genome medicine · 2016Article
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Authors and funding
5 authors.
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Abstract
backgroundThe study of genomic variation has provided key insights into the functional role of mutations. Predominantly, studies have focused on single nucleotide variants (SNV), which are relatively easy to detect and can be described with rich mathematical models. However, it has been observed that genomes are highly plastic, and that whole regions can be moved, removed or duplicated in bulk. These structural variants (SV) have been shown to have significant impact on phenotype, but their study has been held back by the combinatorial complexity of the underlying models.
resultsWe describe here a general model of structural variation that encompasses both balanced rearrangements and arbitrary copy-number variants (CNV).
conclusionsIn this model, we show that the space of possible evolutionary histories that explain the structural differences between any two genomes can be sampled ergodically.
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