Comprehensive evaluation and characterisation of short read general-purpose structural variant calling software

A number of computational methods have been developed for calling structural variants (SVs) using short read sequencing data. Here, the authors perform a comprehensive benchmarking analysis comparing 10 general-purpose callers and provide recommendations for both users and methods developers.

Bibliographic Details
Main Authors: Daniel L. Cameron, Leon Di Stefano, Anthony T. Papenfuss
Format: Article
Language:English
Published: Nature Publishing Group 2019-07-01
Series:Nature Communications
Online Access:https://doi.org/10.1038/s41467-019-11146-4