LinkedSV for detection of mosaic structural variants from linked-read exome and genome sequencing data

LinkedSV for detection of mosaic structural variants from linked-read exome and genome sequencing data

Compared to single nucleotide variants and short indels, structural variants (SVs) are often more challenging to detect using high-throughput sequencing based methods. Here, the authors develop LinkedSV, a computational tool for SV detection using linked-read exome and genome sequencing data.

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Bibliographic Details
Main Authors: Li Fang, Charlly Kao, Michael V. Gonzalez, Fernanda A. Mafra, Renata Pellegrino da Silva, Mingyao Li, Sören-Sebastian Wenzel, Katharina Wimmer, Hakon Hakonarson, Kai Wang
Format: article
Language:EN
Published: Nature Portfolio 2019
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Science
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Online Access:https://doaj.org/article/76f9da9e0bae457b92757a7d2b1f0be4
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Summary:Compared to single nucleotide variants and short indels, structural variants (SVs) are often more challenging to detect using high-throughput sequencing based methods. Here, the authors develop LinkedSV, a computational tool for SV detection using linked-read exome and genome sequencing data.

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