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.

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:English
Published: Nature Portfolio 2019-12-01
Series:Nature Communications
Online Access:https://doi.org/10.1038/s41467-019-13397-7