TSProm:解读组织特异性的基因组背景.
Pallavi Surana1, Pratik Dutta1, Nimisha Papineni1
1Department of Biomedical Informatics, Stony Brook University, USA.
bioRxiv : the preprint server for biology
|November 24, 2025
概括
通过分析促体附近的DNA序列,TSProm破译了组织特异性 (TSp) 基因调节. 这种人工智能框架确定了关键的调控元素和转录因子,进步了我们对健康和疾病中的基因表达的理解.
科学领域:
- 基因组学就是基因组学.
- 计算生物学 计算生物学
- 表观遗传学 在表观遗传学中,表观遗传学是指表观遗传学.
背景情况:
- 组织特异性 (TSp) 基因表达对发育和疾病至关重要.
- 传统方法错过了非编码DNA中的调控信息.
- 远程发起区域包含关键的监管语法.
研究的目的:
- 介绍TSProm,一个使用DNA基础模型 (DNABERT2) 来解码TSp促进器监管逻辑的框架.
- 通过比较模型训练来分离定义组织身份的序列动图.
- 提供可解释的AI (xAI) 以实现强大的特征解释.
主要方法:
- 专门的DNA基础模型 (DNABERT2) 用于TSp促进体分析.
- 两种模型的比较培训:一般促进生物学 (A) 和TSp法规 (B).
- 集成的xAI模块与基于注意力的发现和SHAP分析.
主要成果:
- 在大脑促进体 (SP1,MYC,HES6) 中确定了临床相关的转录因子 (TF).
- 验证了TF在与大脑相关的疾病,如质瘤和神经母细胞瘤中的作用.
- 揭示了C2H2指蛋白在TSp基因调节中占主导地位.
结论:
- TSProm提供了一个新的,可解释的框架,用于识别TSp基因调节元素.
- 提供了强大的计算工具,用于研究TSp基因调节在正常和疾病状态.
- 进步了解非编码DNA中的调节语法.
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