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Science:使用AI模型预测哪些启动子突变会改变基因表达
生物世界· 2025-08-11 04:02
Core Viewpoint - The article discusses the development of PromoterAI, an AI model by Illumina researchers, which accurately predicts expression-altering mutations in non-coding promoter regions, highlighting its significance in understanding genetic mutations and their impact on human health and rare diseases [3][4][6]. Group 1: PromoterAI Development and Functionality - PromoterAI is a deep learning model designed to predict the effects of promoter mutations on gene expression by evaluating genomic sequences in promoter regions [6]. - The model was trained at single nucleotide resolution to predict histone modifications, DNA accessibility, transcription factor binding, and gene expression around transcription start sites [6][9]. - The research team constructed a training dataset containing thousands of rare promoter mutations associated with abnormal gene expression across various tissues, controlling for confounding variables [6][9]. Group 2: Research Findings and Implications - The study found that predicted expression-altering promoter mutations were significantly enriched in clinically relevant genes of rare disease patients, contributing to 6% of the genetic burden associated with rare diseases [4][9]. - Analysis of population allele frequency spectra showed a significant depletion of predicted harmful mutations, indicating natural selection's role in removing deleterious mutations [7]. - PromoterAI's predictions were strongly correlated with protein abundance and quantitative trait measurements, enhancing the understanding of genetic contributions to rare diseases [7][9]. Group 3: Clinical Applications and Future Directions - The model was applied to undiagnosed rare disease patients in the Genomics England cohort, revealing a specific enrichment of predicted mutations in the promoter regions of Mendelian disease genes [7][9]. - PromoterAI fills a critical gap in genomic interpretation by accurately detecting promoter mutations that affect gene expression, which is often overlooked in current clinical genomic analyses focused on coding region mutations [9].
可以改变你生活的 10 点领悟
3 6 Ke· 2025-05-02 00:06
Group 1 - The article emphasizes the inherent power within individuals to change their lives through energy transformation and self-awareness [2][4][6] - Dr. Joe Dispenza's work is rooted in his personal experience of overcoming a severe spinal injury through mental focus and intention [3][26] - The connection between thoughts, emotions, and physical health is highlighted, suggesting that negative emotions can lead to chronic diseases [16][30][31] Group 2 - The article outlines ten insights from Dr. Dispenza's retreat, focusing on the importance of attention, personality, and subconscious influences on reality [4][8][12] - It discusses the role of meditation in accessing the subconscious and changing habitual behaviors [23][25][39] - The concept of gene expression is introduced, indicating that lifestyle choices can influence genetic outcomes, rather than genetics being solely deterministic [26][29]