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

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测序成为可能。这些技术产量的急剧增加要求用于管理其产出的技术取得同样的进步。在过去的十年中，本体已经成为管理大型生物医学数据集不可或缺的工具。序列本体（SO）是目前世界上使用最广泛的用于描述序列注释的本体。快速基因组重测序的出现使得SO也提供了描述序列变异的手段变得至关重要。因此，本次更新提交有两个广泛的目标：(1)将SO扩展到基因组变体注释领域；(2)使SO与生物医学本体和基因组学领域的最新发展相协调。如果我们要满足研究人员在现有基因注释的背景下寻求交换、比较和分析重测序基因组及其变体的数据管理需求，这两者都是必不可少的。

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.