BioinformaticsbioRxiv
Genotyping of Inversions and Tandem Duplications
Jana Ebler, Alexander Schoenhuth, Tobias Marschall
This paper introduces DIGTYPER, a statistical method for genotyping inversions and duplications from NGS data, showing improved performance over DELLY for duplications and short inversions.
DOI 10.1093/bioinformatics/btx020