AIMC Journal:
Global medical genetics
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Can automated copy number variation pathogenicity prediction tools replace manual review under the ACMG framework? A clinical validation.
Global medical genetics
Mar 6, 2026
BACKGROUND: Copy Number Variation (CNV) is associated with numerous complex diseases, yet their pathogenicity assessment remains heavily dependent on manual expert review, a process that is cumbersome and time-consuming. Although a variety of automat...
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