School of Informatics, University of Edinburgh, Edinburgh, UK.
West of Scotland Clinical Genetics Service, Queen Elizabeth University Hospital, Glasgow, Queen, UK.
Genome Med. 2024 Nov 6;16(1):127. doi: 10.1186/s13073-024-01398-1.
Genetically determined disorders are highly heterogenous in clinical presentation and underlying molecular mechanism. The evidence underpinning these conditions in the peer-reviewed literature requires robust critical evaluation for diagnostic use. Here, we present a structured curation process for Gene2Phenotype (G2P). This draws on multiple lines of clinical, bioinformatic and functional evidence. The process utilises and extends existing terminologies, allows for precise definition of the molecular basis of disease, and confidence levels to be attributed to a given gene-disease assertion. In-depth disease curation using this process will prove useful in applications including in diagnostics, research and development of targeted therapeutics. G2P: www.ebi.ac.uk/gene2phenotype .
遗传性疾病在临床表现和潜在分子机制方面具有高度异质性。同行评议文献中这些疾病的证据需要进行严格的批判性评估，才能用于诊断。在这里，我们展示了 Gene2Phenotype（G2P）的结构化策展流程。该流程借鉴了多种临床、生物信息学和功能证据。该流程利用并扩展了现有术语，能够精确定义疾病的分子基础，并为给定的基因-疾病关联分配置信度级别。使用此流程进行深入的疾病策展将在包括诊断、靶向治疗的研究和开发在内的应用中证明是有用的。G2P：www.ebi.ac.uk/gene2phenotype。
