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Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 13, 2016
Recommendations for the integration of genomics into clinical practiceSarah Bowdin, Adel Gilbert, Emma Bedoukian, et al.American Journal of Human Genetics|March 24, 2026
The Electronic Medical Records and Genomics study: Design and analytic framework for assessing the impact of genome-informed risk assessmentsNita Limdi, T Mark Beasley, Josh Cortopassi, et al.Medrxiv : the Preprint Server for Health Sciences|June 19, 2023
Selection, optimization, and validation of ten chronic disease polygenic risk scores for clinical implementation in diverse populationsNiall J Lennon, Leah C Kottyan, Christopher Kachulis, et al.Medrxiv : the Preprint Server for Health Sciences|July 3, 2026
Structural variant discovery and diagnostic impact in rare diseases from short-read and long-read sequencingAlba Sanchis-Juan, Yulia Mostovoy, Sarah L Stenton, et al.Genome Research|February 1, 2015
Actionable exomic incidental findings in 6503 participants: challenges of variant classificationLaura M Amendola, Michael O Dorschner, Peggy D Robertson, et al.Biorxiv : the Preprint Server for Biology|May 19, 2023
The landscape of tolerated genetic variation in humans and primatesHong Gao, Tobias Hamp, Jeffrey Ede, et al.Pageof 2