A deep learning framework for structural variant discovery and genotyping
Victoria Popic, Chris Rohlicek, Fabio Cunial, Kiran V. Garimella, Dmitry Meleshko, Iman Hajirasouliha
This paper introduces a deep learning framework called Cue for structural variant discovery and genotyping, showing improved performance over existing methods on synthetic and real data.
bioRxiv · Apr 30, 2022 · PreprintBioinformatics