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This Collection focuses on comprehensive genomic analysis for undiagnosed rare diseases, and explores emerging approaches aimed at overcoming limitations in variant detection and confirmation.

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Approaches for identifying pathogenic variants causing rare diseases

  • 专题合集

  • 发表日期：

    2025年

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摘要

This Collection focuses on comprehensive genomic analysis for undiagnosed rare diseases, and explores emerging approaches aimed at overcoming limitations in variant detection and confirmation.