Detecting tandem repeat expansions in cohorts sequenced with short-read sequencing data
Rick M. Tankard, Mark F. Bennett, Peter Degorski, Martin Bruce Delatycki, Paul J. Lockhart, Melanie Bahlo
The paper introduces exSTRa, a method to detect repeat expansions in WES and WGS data, showing superior performance for WES compared to existing methods.
The American Journal of Human Genetics · Nov 29, 2018Peer-reviewedBioinformatics