Christopher W. Moth, Jonathan H. Sheehan, Abdullah Al Mamun, R. Michael Sivley, Alican Gulsevin, David Rinker, John A. Capra, Jens Meiler
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引用次数: 0
摘要
罕见遗传疾病的有效诊断和治疗需要对患者的意义不明遗传变异(VUS)进行解读。目前,临床决策主要由基因表型关联数据库和基于 DNA 的评分方法指导。我们可通过网络访问的变异分析管道--VUStruct,通过深入分析变异在三维蛋白质结构背景下的下游分子影响,对这些既有方法进行了补充。蛋白质三维结构模型、基因测序、计算能力和人工智能的共同发展推动了 VUStruct 的影响力不断扩大。
VUStruct: a compute pipeline for high throughput and personalized structural biology
Effective diagnosis and treatment of rare genetic disorders requires the interpretation of a patient’s genetic variants of unknown significance (VUSs). Today, clinical decision-making is primarily guided by gene-phenotype association databases and DNA-based scoring methods. Our web-accessible variant analysis pipeline, VUStruct, supplements these established approaches by deeply analyzing the downstream molecular impact of variation in context of 3D protein structure. VUStruct’s growing impact is fueled by the co-proliferation of protein 3D structural models, gene sequencing, compute power, and artificial intelligence.