利用 Gene2Phenotype (G2P) 分析基因组疾病与基因的关系。

IF 10.4 1区 生物学 Q1 GENETICS & HEREDITY
T Michael Yates, Morad Ansari, Louise Thompson, Sarah E Hunt, Elena Cibrian Uhalte, Rachel J Hobson, Joseph A Marsh, Caroline F Wright, Helen V Firth
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引用次数: 0

摘要

由基因决定的疾病在临床表现和潜在分子机制方面具有高度异质性。同行评议文献中有关这些疾病的证据需要进行严格的评估才能用于诊断。在此,我们介绍了基因2表型(Gene2Phenotype,G2P)的结构化整理过程。该流程借鉴了临床、生物信息学和功能性证据的多种方法。该流程利用并扩展了现有术语,允许精确定义疾病的分子基础,并将置信度归因于给定的基因-疾病断言。事实证明,利用这一流程进行深入的疾病整理将有助于诊断、研究和开发靶向治疗药物等应用。G2P: www.ebi.ac.uk/gene2phenotype 。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Curating genomic disease-gene relationships with Gene2Phenotype (G2P).

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 .

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来源期刊
Genome Medicine
Genome Medicine GENETICS & HEREDITY-
CiteScore
20.80
自引率
0.80%
发文量
128
审稿时长
6-12 weeks
期刊介绍: Genome Medicine is an open access journal that publishes outstanding research applying genetics, genomics, and multi-omics to understand, diagnose, and treat disease. Bridging basic science and clinical research, it covers areas such as cancer genomics, immuno-oncology, immunogenomics, infectious disease, microbiome, neurogenomics, systems medicine, clinical genomics, gene therapies, precision medicine, and clinical trials. The journal publishes original research, methods, software, and reviews to serve authors and promote broad interest and importance in the field.
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