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<p>Human traits vary in part due to genetically-determined change of transcription factor binding affinity within gene regulatory regions. However, few trait-causal variants or mechanisms are known. Here we propose 1,935 variants as strong candidates for causally altering human traits. We discover these through <i>baal-nf</i> which uses chromatin immunoprecipitation-sequencing data to identify allelic imbalance at heterozygous sites for affinity-concordant positions within transcription factor- and co-factor binding motifs. These allele-specific binding sites are evolutionarily conserved and enriched for trait and gene expression associations. <i>baal-nf</i> and these high-quality allele-specific binding sites allow trait variation due to altered transcription factor binding to be investigated.</p>

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baal-nf identifies motif-disrupting variants that decrease transcription factor binding affinity

  • 期刊论文

  • 出版模式：

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  • 发表日期：

    2026年1月13日

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  • Breeshey Roskams-Hieter,
  • Øyvind Almelid,
  • Chris P. Ponting

摘要

Human traits vary in part due to genetically-determined change of transcription factor binding affinity within gene regulatory regions. However, few trait-causal variants or mechanisms are known. Here we propose 1,935 variants as strong candidates for causally altering human traits. We discover these through baal-nf which uses chromatin immunoprecipitation-sequencing data to identify allelic imbalance at heterozygous sites for affinity-concordant positions within transcription factor- and co-factor binding motifs. These allele-specific binding sites are evolutionarily conserved and enriched for trait and gene expression associations. baal-nf and these high-quality allele-specific binding sites allow trait variation due to altered transcription factor binding to be investigated.