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TERMINOLOGICAL MAPPING FOR HIGH THROUGHPUT COMPARATIVE BIOLOGY OF PHENOTYPES

机译:表型高通量比较生物学的术语映射

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摘要

Comparative biological studies have led to remarkable biomedical discoveries. While genomic science and technologies are advancing rapidly, our ability to precisely specify a phenotype and compare it to related phenotypes of other organisms remains challenging. This study has examined the systematic use of terminology and knowledge based technologies to enable high throughput comparative phenomics. More specifically, we measured the accuracy of a multistrategy automated classification method to bridge the phenotype gap between a phenotypic terminology (MGD: Phenoslim) and a broad-coverage clinical terminology (SNOMED CT). Furthermore, we qualitatively evaluate the additional emerging properties of the combined terminological network for comparative biology and discovery science. According to the gold standard (n=100), the accuracies (precision | recall) of the composite automated methods were 67% | 97% (mapping for identical concepts) and 85% | 98% (classification). Quantitatively, only 2% of the phenotypic concepts were missing from the clinical terminology, however, qualitatively the gap was larger: conceptual scope, granularity and subtle, yet significant, homonymy problems were observed. These results suggest that, as observed in other domains, additional strategies are required for combining terminologies.
机译:比较生物学研究导致了惊人的生物医学发现。在基因组科学和技术迅速发展的同时,我们精确指定表型并将其与其他生物的相关表型进行比较的能力仍然具有挑战性。这项研究检查了术语和基于知识的技术的系统使用,以实现高通量比较表观。更具体地说,我们测量了一种多策略自动分类方法的准确性,该方法可以弥合表型术语(MGD:Phenoslim)和广泛覆盖的临床术语(SNOMED CT)之间的表型鸿沟。此外,我们定性地评估了用于比较生物学和发现科学的组合术语网络的其他新兴性质。根据金标准(n = 100),复合自动化方法的准确性(精确度|召回率)为67%|精确度。 97%(相同概念的映射)和85%| 98%(分类)。从数量上说,临床术语仅缺少2%的表型概念,但从质量上说,差距更大:观察到概念范围,粒度和细微但显着的同义问题。这些结果表明,正如在其他领域中观察到的那样,需要更多的策略来组合术语。

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  • 期刊名称 other
  • 作者

    Y.A. LUSSIER; J. LI;

  • 作者单位
  • 年(卷),期 -1(202–213),-1
  • 年度 -1
  • 页码 202–213
  • 总页数 13
  • 原文格式 PDF
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