Software for the creation and quality control of genome annotations

描述（由申请人提供）：医学，农业和其他生物相关行业越来越依赖于基因组DNA中包含的信息。推进我们对基因结构和调控的理解，最终将导致对抗癌症和其他疾病的新疗法，更便宜，更有营养的食物，以及更少浪费的材料和能源。基因组测序现在是一项相对简单的任务。然而，注释它们被证明是一个更加困难的问题，特别是对于真核基因组。除了最简单的真核生物基因组之外，所有的基因目录仍然是不完整的，即使是具有悠久遗传学和分子生物学历史的著名生物也是如此。由于注释是许多研究和技术应用的焦点，因此它们的正确性至关重要。不完整和不正确的注释会毒害每一个使用它们的实验。我们认为，改善基因组注释的关键在于更好的软件，用于基因组注释的创建和质量控制。该提案描述了我们对一个名为GenomeInvestigator的系统的设计。GenomeInvestigator由三个部分组成：MAKER、VERIFIER和EXPERIATOR。MAKER创建基因组注释，MANUATOR对现存注释进行质量控制分析，VERIFIER自动设计注释中有问题部分的实验。与基因组测序类似，MAKER和EQUIPATOR产生具有质量值的注释草案，VERIFIER指导注释的完成工作。GenomeInvestigator的设计便于携带，并将免费提供。它的输出将是序列本体兼容和GMOD兼容。 医学、农业和其他生物相关行业越来越依赖于基因组DNA中包含的信息。推进我们对基因结构和调控的理解，最终将导致对抗癌症和其他疾病的新疗法，更便宜，更有营养的食物，以及更少浪费的材料和能源。

DESCRIPTION (provided by applicant): Medicine, agriculture, and other biology-related industries increasingly depend on the information contained in genomic DNA. Advancing our understanding of how genes are structured and regulated will eventually lead to novel therapeutics for combating cancer and other diseases, to cheaper and more nutritious food, and to less wasteful materials and energy sources. Sequencing genomes is now a relatively straightforward task. Annotating them, however, is proving to be a much more difficult one, especially for eukaryotic genomes. The gene catalogs of all but the simplest eukaryotic genomes are still incomplete, even for well-known organisms with a long history of genetics and molecular biology. Because annotations are the focal point for many kinds of research and technological applications, it is essential that they be correct. Incomplete and incorrect annotations poison every experiment that employs them. We believe the key to improving genome annotation lies in better software for the creation and quality control of genome annotations. This proposal describes our design for a system we call GenomeInvestigator. GenomeInvestigator consists of three components: MAKER, EVALUATOR and VERIFIER. MAKER creates genome annotations, EVALUATOR performs quality control analyses on extant annotations, and VERIFIER automatically designs experiments to problematic portions of annotations. By analogy to genome sequencing, MAKER and EVALUATOR produce draft annotation with quality values, and VERIFIER directs annotation finishing efforts. GenomeInvestigator is designed to be easily portable and will be freely available. Its outputs will be Sequence Ontology compliant and GMOD compatible. Medicine, agriculture, and other biology-related industries increasingly depend on the information contained in genomic DNA. Advancing our understanding of how genes are structured and regulated will eventually lead to novel therapeutics for combating cancer and other diseases, to cheaper and more nutritious food, and to less wasteful materials and energy sources.