Lecroq T, Soualmia L F
Yearb Med Inform. 2014 Aug 15;9(1):212-4. doi: 10.15265/IY-2014-0039.
To summarize excellent current research in the field of Bioinformatics and Translational Informatics with application in the health domain.
We provide a synopsis of the articles selected for the IMIA Yearbook 2014, from which we attempt to derive a synthetic overview of current and future activities in the field. A first step of selection was performed by querying MEDLINE with a list of MeSH descriptors completed by a list of terms adapted to the section. Each section editor evaluated independently the set of 1,851 articles and 15 articles were retained for peer-review.
The selection and evaluation process of this Yearbook's section on Bioinformatics and Translational Informatics yielded three excellent articles regarding data management and genome medicine. In the first article, the authors present VEST (Variant Effect Scoring Tool) which is a supervised machine learning tool for prioritizing variants found in exome sequencing projects that are more likely involved in human Mendelian diseases. In the second article, the authors show how to infer surnames of male individuals by crossing anonymous publicly available genomic data from the Y chromosome and public genealogy data banks. The third article presents a statistical framework called iCluster+ that can perform pattern discovery in integrated cancer genomic data. This framework was able to determine different tumor subtypes in colon cancer.
The current research activities still attest the continuous convergence of Bioinformatics and Medical Informatics, with a focus this year on large-scale biological, genomic, and Electronic Health Records data. Indeed, there is a need for powerful tools for managing and interpreting complex data, but also a need for user-friendly tools developed for the clinicians in their daily practice. All the recent research and development efforts are contributing to the challenge of impacting clinically the results and even going towards a personalized medicine in the near future.
总结生物信息学与转化信息学领域的优秀当前研究及其在健康领域的应用。
我们提供了入选《2014年国际医学信息学协会年鉴》文章的概要，试图从中得出该领域当前及未来活动的综合概述。第一步选择是通过用医学主题词表（MeSH）描述符列表并结合适用于该部分的术语列表查询MEDLINE来进行的。每个部分编辑独立评估了1851篇文章，保留了15篇文章进行同行评审。
本年度年鉴生物信息学与转化信息学年鉴部分的选择和评估过程产生了三篇关于数据管理和基因组医学的优秀文章。在第一篇文章中，作者介绍了VEST（变异效应评分工具），它是一种监督式机器学习工具，用于对在全外显子测序项目中发现的、更可能与人类孟德尔疾病相关的变异进行优先级排序。在第二篇文章中，作者展示了如何通过交叉来自Y染色体的匿名公开可用基因组数据和公共家谱数据库来推断男性个体的姓氏。第三篇文章介绍了一个名为iCluster+的统计框架，它可以在整合的癌症基因组数据中进行模式发现。该框架能够确定结肠癌的不同肿瘤亚型。
当前的研究活动仍证明了生物信息学与医学信息学的持续融合，今年重点关注大规模生物、基因组和电子健康记录数据。确实，既需要强大的工具来管理和解释复杂数据，也需要为临床医生日常实践开发的用户友好型工具。最近所有的研发努力都在应对将研究结果在临床上产生影响这一挑战，甚至在不久的将来朝着个性化医疗发展。
