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Nature Biotechnology|April 4, 2025
Severus detects somatic structural variation and complex rearrangements in cancer genomes using long-read sequencingAyse G Keskus, Asher Bryant, Tanveer Ahmad, et al.American Journal of Human Genetics|April 19, 2023
POLR1A variants underlie phenotypic heterogeneity in craniofacial, neural, and cardiac anomaliesKelly Smallwood, Kristin E N Watt, Satoru Ide, et al.Pageof 3