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<p>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.</p>

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The quest for a complete understanding of the human genome

  • 期刊论文

  • 出版模式：

    开放获取

  • 发表日期：

    2025年8月7日

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  • Ahmad Abou Tayoun,
  • Hamad Ali,
  • Younes Mokrab

摘要

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.