Leveraging a WGS compression and indexing format with dynamic graph references to call structural variants.
Adam C. English, Nils McCarthy, Robert Flickenger, Surabhi Maheshwari, Lisa Meed, Alindrina Mangubat, Sri Niranjan Shekar
The paper introduces a structural variant calling pipeline called BioGraph, which achieves higher sensitivity for detecting SVs compared to existing pipelines, though with lower precision.
bioRxiv · Apr 24, 2020 · PreprintBioinformatics