Mahmoud, M;
Gobet, N;
Cruz-Dávalos, DI;
Mounier, N;
Dessimoz, C;
Sedlazeck, FJ;
(2019)
Structural variant calling: the long and the short of it.
Genome Biology volume
, 20
(1)
, Article 246. 10.1186/s13059-019-1828-7.
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Abstract
Recent research into structural variants (SVs) has established their importance to medicine and molecular biology, elucidating their role in various diseases, regulation of gene expression, ethnic diversity, and large-scale chromosome evolution-giving rise to the differences within populations and among species. Nevertheless, characterizing SVs and determining the optimal approach for a given experimental design remains a computational and scientific challenge. Multiple approaches have emerged to target various SV classes, zygosities, and size ranges. Here, we review these approaches with respect to their ability to infer SVs across the full spectrum of large, complex variations and present computational methods for each approach.
| Type: | Article |
|---|---|
| Title: | Structural variant calling: the long and the short of it |
| Location: | England |
| Open access status: | An open access version is available from UCL Discovery |
| DOI: | 10.1186/s13059-019-1828-7 |
| Publisher version: | https://doi.org/10.1186/s13059-019-1828-7 |
| Language: | English |
| Additional information: | © The Author(s) 2019. This article is distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/). |
| Keywords: | De novo assembly, Gene fusion, Hybrid, Long-read, Mapping, RNA-Seq, Short-read, Structural variant (SV) detection |
| UCL classification: | UCL UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Life Sciences UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Life Sciences > Div of Biosciences UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Life Sciences > Div of Biosciences > Genetics, Evolution and Environment |
| URI: | https://discovery.ucl.ac.uk/id/eprint/10086581 |
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