Extension of the Sequence Ontology: Preparing for the (re) sequencing revolution

序列本体的扩展：为（重新）测序革命做准备

• 批准号: 8148118
• 负责人: Karen Louise Eilbeck
• 金额: $ 30万
• 依托单位: UNIVERSITY OF UTAH
• 依托单位国家: 美国
• 财政年份: 2007
• 资助国家: 美国
• 起止时间: 2007-08-15 至 2014-04-30
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/8148118
• 关键词: Adoption; Animal Model; Biological; Biology; Computer software; Data; Data Set; Development; Ensure; Eye; Funding; Genes; Genome; Genomics; Goals; Human Genome; Information Management; Ontology; Organism; Output; Process; Property; Publications; Publishing; Quality Control; Research; Research Personnel; Resources; Structure; Techniques; Technology; Terminology; Time; United States National Institutes of Health; Validation; Variant; Work; base; biomedical informatics; biomedical ontology; data management; file format; genome sequencing; information organization; meetings; novel; success; tool

DESCRIPTION (provided by applicant): High throughput sequencing technologies have made possible both personal human genome sequencing and rapid re-sequencing of many organisms. The dramatic increase in the throughputs of these technologies demands equal progress in the technologies used to manage their outputs. Over the last decade ontologies have emerged as indispensible tools for the management of large biomedical datasets. The Sequence Ontology (SO) is world's most widely used ontology for describing sequence annotations. The advent of rapid genome re-sequencing has made it essential that SO also provide the means to describe sequence variants. This renewal submission thus has two broad goals: (1) extend SO into the realm of genomic variant annotation, and (2) harmonize SO with recent developments in the field of biomedical ontology and genomics. Both are essential if we are to meet the data management needs of researchers seeking to exchange, compare and analyze re-sequenced genomes and their variants in the context of existing gene annotations. PUBLIC HEALTH RELEVANCE: The gigantic datasets produced by personal human genome sequencing present daunting challenges for data management. This proposal seeks funds to extend tools for describing genome annotations, into the realm of sequence variation. Doing so will facilitate exchange, comparisons and analyses of re-sequenced genomes.

描述（由申请人提供）：高通量测序技术使个人人类基因组测序和许多生物的快速重新序列成为可能。这些技术的吞吐量的急剧增加需要用于管理其产出的技术的同等进步。在过去的十年中，本体论已成为用于管理大型生物医学数据集的必不可少的工具。序列本体论（SO）是世界上最广泛使用的本体论来描述序列注释。快速基因组重新测序的出现使得必须提供描述序列变体的手段。因此，该更新提交有两个广泛的目标：（1）SO扩展到基因组变体注释的领域，（2）与生物医学本体论和基因组学领域的最新发展相协调。如果我们要在现有基因注释的背景下，我们要满足寻求交换，比较和分析重新测试基因组及其变体的研究人员的数据管理需求，这两者都是必不可少的。 公共卫生相关性：个人人类基因组测序产生的巨大数据集当前对数据管理的挑战。该提案寻求资金将描述基因组注释的工具扩展到序列变化的领域。这样做将促进对重新测序基因组的交换，比较和分析。