扩展和完善哺乳动物表型本体,以加强疾病模型的发现。

IF 3.3 3区 医学 Q2 CELL BIOLOGY
Susan M Bello, Anna V Anagnostopoulos, Leigh C Carmody, Nicolas Matentzoglu, Cynthia L Smith
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引用次数: 0

摘要

小鼠是研究基因功能和模拟人类疾病的首要模型系统。近40年来,小鼠基因组信息学一直致力于捕获和整合小鼠研究产生的数据。这种整合的一个关键组成部分是哺乳动物表型(MP)本体的开发和使用,以捕获小鼠基因功能改变的形态和生理影响。随着使用MP捕获的表型数据的丰富,其在人类疾病诊断中的效用也增加了。已经开发出工具来使用小鼠和人类表型进行变异鉴定。为了增强MP在疾病诊断中的适用性,并提高研究人员为特定研究问题寻找模型的能力,我们对MP进行了以疾病为重点的扩展。此外,我们还致力于改进MP与人类表型本体的一致性,使小鼠和人类表型之间的自动翻译更容易、更可靠。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Expanding and refining the mammalian phenotype ontology to enhance disease model discovery.

The mouse is a premier model system for investigating gene function and modeling human disease. For almost 40 years, Mouse Genome Informatics has worked to capture and integrate the data generated from mouse studies. A critical component of this integration is the development and use of the Mammalian Phenotype (MP) ontology to capture the morphological and physiological effects of alterations to gene function in the mouse. As the wealth of phenotype data captured using the MP has expanded, its utility in the diagnosis of human disease has increased. Tools have been developed to use mouse and human phenotypes in variant identification. To enhance the applicability of the MP in disease diagnosis and increase the ability of researchers to find models for specific research questions, we have undertaken a disease focused expansion of the MP. In addition, we have worked to improve the alignment of the MP to the Human Phenotype ontology to make automated translation between mouse and human phenotypes easier and more reliable.

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来源期刊
Disease Models & Mechanisms
Disease Models & Mechanisms 医学-病理学
CiteScore
6.60
自引率
7.00%
发文量
203
审稿时长
6-12 weeks
期刊介绍: Disease Models & Mechanisms (DMM) is an online Open Access journal focusing on the use of model systems to better understand, diagnose and treat human disease.
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