A comprehensive benchmarking of WGS-based structural variant callers
Varuni Sarwal, Sebastian Niehus, Ram Ayyala, Sei Chang, Angela Lu, Nicholas Darci-Maher, Russell Littman, Karishma Chhugani, Arda Söylev, Zoia Comarova, Emily Wesel, Jacqueline Castellanos, Rahul Chikka, Margaret G. Distler, Eleazar Eskin, , Serghei Mangul
This study benchmarks WGS-based structural variant callers using a PCR-confirmed gold standard, finding wide performance variation and identifying tools best suited for low and ultra-low pass data.
bioRxiv · Apr 16, 2020 · PreprintBioinformatics