jmonlong/PopSV: Population-based detection of structural variants from Read-Depth signal

Detect abnormal read coverage using a set of samples as references. From high-throughput sequencing, the genome is binned and read mapping to each bin are counted. From these read counts, PopSV test, in each bin, is the read counts are different between a sample of interest and a set of reference samples. Functions for pre/post-processing are also provided.

install.packages("remotes")
remotes::install_github("jmonlong/PopSV")