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Medrxiv : the Preprint Server for Health Sciences|February 20, 2025
Calibrated Functional Data Decreases Clinical Uncertainty for Tier 1 Monogenic Disease: Application to Long QT SyndromeChai-Ann Ng, Matthew J O'Neill, Samskruthi R Padigepati, et al.American Journal of Human Genetics|January 30, 2025
Experience using conventional compared to ancestry-based population descriptors in clinical genomics laboratoriesKathryn E Hatchell, Sarah R Poll, Emily M Russell, et al.Plos Genetics|December 8, 2022
Disruption of the HIF-1 pathway in individuals with Ollier disease and Maffucci syndromeSarah R Poll, Renan Martin, Elizabeth Wohler, et al.American Journal of Human Genetics|April 28, 2026
Sensitivity of HiFi long-read genome sequencing for difficult-to-detect pathogenic variants when applied to real-world clinical laboratory samplesJoseph M Devaney, Jessica X Chong, Patricia C Lopes, et al.Pageof 2