Lecroq T, Soualmia L F
Normandie Univ., University of Rouen, LITIS EA 4108, Information Processing in Biology & Health, 76821 Mont-Saint-Aignan Cedex, France. E-mail:
Yearb Med Inform. 2013;8:175-7.
To summarize excellent current research in the field of Bioinformatics and Translational Informatics with application in the health domain and evidence-based medicine.
We provide a synopsis of the articles selected for the IMIA Yearbook 2013, from which we attempt to derive a synthetic overview of current and future activities in the field. Three steps of selection were performed by querying PubMed and Web of Science. A first set of 5,549 articles was refined into a second set of 1,272 articles from which 15 articles were retained for peer-review.
The selection and evaluation process of this Yearbook's section on Bioinformatics and Translational Informatics yielded four excellent articles regarding the Human Genome and Medicine. Exploiting genomic data depends on having the appropriate reference annotation available. In the first article, the goal of the GENCODE Consortium is to produce and publish The GENCODE human reference gene set. As a result it is composed by merged manual and automatic annotations, which are frequently updated from public experimental databases. The quality of genome sequencing is platform-dependant. In the second article, a generic database independent from the sequencing technologies, Huvariome, can help to identify errors and inconsistencies in sequencing. To understand complex diseases of patients it will be of great importance to detect rare gene variants. This is the aim of the third study. Finally, in the last article, the plasma's DNA of healthy individual and patients suffering from cancer is compared.
The current research activities attest to the continuous convergence of Bioinformatics and Medical Informatics for clinical practice. For instance, a direct use of high throughput sequencing technologies for patients could aid the diagnosis of complex diseases (such as cancer) without invasive surgery (such as biopsy) but only with blood analysis. However, ongoing genomic tests will generate massive amounts of data and will imply new trends in the near future: "Big Data" and smart health management.
总结生物信息学与转化信息学领域当前的优秀研究，及其在健康领域和循证医学中的应用。
我们对入选《2013年国际医学信息学协会年鉴》的文章进行了概述，试图从中得出该领域当前及未来活动的综合概述。通过查询PubMed和科学网进行了三个筛选步骤。第一组5549篇文章被提炼为第二组1272篇文章，从中保留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筛选和评估过程产生了四篇关于人类基因组与医学的优秀文章。利用基因组数据依赖于有合适的参考注释。在第一篇文章中，GENCODE联盟的目标是生成并发布GENCODE人类参考基因集。其结果是，它由合并的手动和自动注释组成，并经常从公共实验数据库中更新。基因组测序的质量取决于平台。在第二篇文章中，一个独立于测序技术的通用数据库Huvariome有助于识别测序中的错误和不一致之处。为了理解患者的复杂疾病，检测罕见基因变异将非常重要。这是第三项研究的目的。最后，在最后一篇文章中，对健康个体和癌症患者的血浆DNA进行了比较。
当前的研究活动证明了生物信息学与医学信息学在临床实践中的持续融合。例如，直接将高通量测序技术用于患者，有助于在不进行侵入性手术（如活检）的情况下，仅通过血液分析来诊断复杂疾病（如癌症）。然而，正在进行的基因组检测将产生大量数据，并在不久的将来意味着新的趋势：“大数据”和智能健康管理。
