全基因组关联研究(GWAS)

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AI破解复杂疾病的基因“密码本”
Ke Ji Ri Bao· 2025-06-14 01:42
Core Insights - A new computational tool named TWAVE has been developed by a team from Northwestern University, utilizing generative AI to extract key information from limited gene expression data and identify multi-gene combinations behind complex diseases [1][2] - The TWAVE model simulates gene expression under healthy and diseased states, linking changes in gene activity to phenotypic variations, and accurately pinpointing key gene changes that may trigger cellular state transitions [1][2] Group 1: Technology and Methodology - TWAVE focuses on gene expression levels rather than gene sequences, addressing the limitations of traditional genome-wide association studies (GWAS) that primarily identify single genes associated with specific traits [2] - The model was trained using clinical trial data to recognize expression profiles representing healthy or diseased states, enhancing its ability to identify disease-associated gene networks [2] - TWAVE circumvents privacy issues related to gene sequences and inherently incorporates environmental factors, allowing for a more comprehensive understanding of gene-environment interactions [2] Group 2: Applications and Implications - Testing of TWAVE on various complex diseases demonstrated its capability to identify known pathogenic genes and discover new genes overlooked by existing methods [2] - The findings indicate that the same disease may arise from different gene combinations in different populations, providing a theoretical basis for personalized treatment based on individual genetic drivers [2][3] - The advancements in AI within the life sciences are facilitating a deeper understanding of disease mechanisms and supporting early diagnosis and personalized treatment, accelerating the arrival of the precision medicine era [3]
Nature:你的大脑衰老速度受这64个基因影响
量子位· 2025-03-15 04:42
Core Viewpoint - The article discusses a significant study identifying 64 genes that influence brain aging speed and suggests 13 potential anti-aging drugs, utilizing AI models to analyze brain scans and genetic data [1][3]. Research Overview - The study is noted as the largest attempt to determine genetic factors affecting organ aging, with implications for developing new brain anti-aging drugs [3]. - The research aims to identify factors leading to brain aging and explore potential solutions [5]. Methodology - The study uses Brain Age Gap (BAG) as a marker for brain aging, defined as the difference between predicted brain age and actual age [6]. - Data from 29,097 healthy participants in the UK Biobank was used to train seven AI models for brain age estimation [8]. - Validation was conducted using data from 3,227 healthy and 6,637 brain disease subjects, employing various assessment metrics [9][10]. Genetic Analysis - A Genome-Wide Association Study (GWAS) was performed on 31,520 healthy participants to identify genetic variations associated with BAG [11][12]. - The study explored the causal relationship between BAG and 18 brain diseases, finding a significant impact on intelligence [13][14]. Drug Discovery - The research identified 64 druggable genes linked to biological pathways related to brain aging, suggesting that targeting these genes could help combat aging or related diseases [14][15]. - A drug repurposing analysis revealed 466 potential anti-aging drugs, with 29 showing promise in delaying brain aging [17][18]. - Among these, 20 drugs, including Dasatinib and Diclofenac, have been previously noted for their anti-aging potential, with 13 currently undergoing clinical trials [19][20].