The DOI matches its Crossref record; 120 of the 120 references it cites were found in a registry or an index.
Detection of Genomic Structural Variants from Next-Generation Sequencing Data
Open accessAbstract
Structural variants are genomic rearrangements larger than 50 bp accounting for around 1% of the variation among human genomes. They impact on phenotypic diversity and play a role in various diseases including neurological/neurocognitive disorders and cancer development and progression. Dissecting structural variants from next-generation sequencing data presents several challenges and a number of approaches have been proposed in the literature. In this mini review, we describe and summarize the latest tools - and their underlying algorithms - designed for the analysis of whole-genome sequencing, whole-exome sequencing, custom captures, and amplicon sequencing data, pointing out the major advantages/drawbacks. We also report a summary of the most recent applications of third-generation sequencing platforms. This assessment provides a guided indication - with particular emphasis on human genetics and copy number variants - for researchers involved in the investigation of these genomic events.
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Cited by
Structural variant calling: the long and the short of it
Mahmoud, M., Gobet, N., Cruz-Dávalos, D. I., Mounier, N., Dessimoz, C., & Sedlazeck, F. J. (2019) · Genome Biology · doi:10.1186/s13059-019-1828-7 · Cited by 725
vonHoldt, B. M., Shuldiner, E., Koch, I. J., Kartzinel, R. Y., Hogan, A., Brubaker, L., Wanser, S., Stahler, D., Wynne, C. D. L., Ostrander, E. A., et al. (2017) · Science Advances · doi:10.1126/sciadv.1700398 · Cited by 186
Zhao, X., Collins, R. L., Lee, W.-P., Weber, A. M., Jun, Y., Zhu, Q., Weisburd, B., Huang, Y., Audano, P. A., Wang, H., et al. (2021) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2021.03.014 · Cited by 132
Navigating the non-coding genome in heart development and Congenital Heart Disease
Chahal, G., Tyagi, S., & Ramialison, M. (2019) · Differentiation · doi:10.1016/j.diff.2019.05.001 · Cited by 31
Metadata
- Authors
- Tattini, L., D’Aurizio, R., & Magi, A.
- Venue
- Frontiers in Bioengineering and Biotechnology
- Publisher
- Frontiers Media SA
- Published
- 2015-06-25
- Volume
- 3
- Pages
- 92-92
- ISSN
- 2296-4185 (ISSN-L)
- OpenAlex
- W1544712555
- Cited by
- 273
- References
- 120
- FWCI
- 23.03
- Type
- journal article
- Language
- en
- Open access
- gold
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- Tattini, L., D’Aurizio, R., & Magi, A. (2015). Detection of Genomic Structural Variants from Next-Generation Sequencing Data. Frontiers in Bioengineering and Biotechnology. https://doi.org/10.3389/fbioe.2015.00092
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