This roadmap outlines enhanced genome assemblies and predictive models for clinical interpretation of the human genome, highlighting key methodologies.
An integrated roadmap toward clinical interpretation of the complete human genome is in dire need. We discuss approaches to meet this goal, including integrating data from diverse, well-phenotyped populations with enhanced long-read genome assemblies, variant calling as well as improved predictive models and scalable functional assays.
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Tayoun et al. (2025) studied this question.
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