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<p>Existing methods to distinguish deleterious/pathogenic from neutral variants still inadequately capture the full spectrum of genetic variant impact on fitness and disease susceptibility. We introduce the FIND model, which stratifies genetic variants into refined categories based on fitness spectrum and derived allele frequency. FIND demonstrates enhanced resolution in differentiating trait-modulating alleles from those that are deleterious or neutral, delivering higher performance over existing genome-wide methods. Applying FIND to the interpretation of clinical variants demonstrates its substantial potential in reclassifying variants of unknown significance, providing a new tool to explore the complexities of genetic contributions to health.</p>

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Stratifying variant deleteriousness and trait-modulating effect under human recent adaptation using the FIND model

  • 期刊论文

  • 出版模式：

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  • 发表日期：

    2025年10月29日

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  • Xutong Fan,
  • Dandan Huang,
  • Zhikun Wu,
  • Xinran Dong,
  • Jianhua Wang,
  • Shijie Zhang,
  • Xiaobao Dong,
  • Xiaoqiong Gu,
  • Miaoxin Li,
  • Pak Chung Sham,
  • Xianfu Yi,
  • Wenhao Zhou,
  • Mulin Jun Li

摘要

Existing methods to distinguish deleterious/pathogenic from neutral variants still inadequately capture the full spectrum of genetic variant impact on fitness and disease susceptibility. We introduce the FIND model, which stratifies genetic variants into refined categories based on fitness spectrum and derived allele frequency. FIND demonstrates enhanced resolution in differentiating trait-modulating alleles from those that are deleterious or neutral, delivering higher performance over existing genome-wide methods. Applying FIND to the interpretation of clinical variants demonstrates its substantial potential in reclassifying variants of unknown significance, providing a new tool to explore the complexities of genetic contributions to health.