baal-nfは転写因子結合親和性を低下させるモチーフ破壊バリアントを特定する
Breeshey Roskams-Hieter1,2, Øyvind Almelid3, Chris P Ponting4
1Institute of Genetics and Cancer, MRC Human Genetics Unit, Western General Hospital, University of Edinburgh, Edinburgh, EH4 2XU, UK. b.j.roskams-hieter@sms.ed.ac.uk.
Abstract:
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.
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