Bioinformatics for personal genome interpretation
Bioinformatics for personal genome interpretation
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DOI：
10.1093/bib/bbr070
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发表时间：
2012-07-01
影响因子：
9.5
通讯作者：
Bromberg, Yana
中科院分区：
文献类型：
--
作者：
Capriotti, Emidio;Nehrt, Nathan L.;Bromberg, Yana
十年前，一个国际联盟发布了人类基因组序列的第一份草案。尽管对这些数据的分析表明了许多疾病的遗传基础，但我们尚未能够完全量化基因型和表型之间的关系。因此，科学界当前的主要工作集中于评估个体对特定表型性状的遗传背景的倾向。许多资源旨在识别和注释导致观察到的表型的特定基因。其中一些利用种内遗传变异作为更好地理解这种关系的手段。此外，一些在线资源现在致力于收集单核苷酸变异和其他类型的变异，并注释它们的功能效应以及与表型性状的关联。这些信息使研究人员能够开发生物信息学工具来分析数量迅速增加的新提取的变异数据并预测未表征变异的影响。在这项工作中，我们回顾了该领域最重要的发展——数据库和生物信息学工具，这对于我们解释人类变异组的共同努力至关重要。
An international consortium released the first draft sequence of the human genome 10 years ago. Although the analysis of this data has suggested the genetic underpinnings of many diseases, we have not yet been able to fully quantify the relationship between genotype and phenotype. Thus, a major current effort of the scientific community focuses on evaluating individual predispositions to specific phenotypic traits given their genetic backgrounds. Many resources aim to identify and annotate the specific genes responsible for the observed phenotypes. Some of these use intra-species genetic variability as a means for better understanding this relationship. In addition, several online resources are now dedicated to collecting single nucleotide variants and other types of variants, and annotating their functional effects and associations with phenotypic traits. This information has enabled researchers to develop bioinformatics tools to analyze the rapidly increasing amount of newly extracted variation data and to predict the effect of uncharacterized variants. In this work, we review the most important developments in the field-the databases and bioinformatics tools that will be of utmost importance in our concerted effort to interpret the human variome.