De Novo Assembly Tools: Research with Unbiased Engines - Renewal (DNA-TRUER)

总结 这项拨款更新提案是关于开发创新的新软件， 研究人员利用DNA测序的新进展。 在过去的十年中，技术进步已经使DNA测序成为一种常规和成本- 在生命科学研究的许多领域都是有效的方法。当今的主流技术 产生数百万个短序列，由75-300个碱基对组成（这些“字母”使 DNA序列）。这些简短的“读”必须以正确的顺序组装， 数据的意义。比罗尔博士和他的团队是世界基因组组装的领导者，该奖项- 他们开发的获奖软件（在现有NIH资助和其他 已被用于各种DNA测序项目，包括癌症基因组 阿特拉斯项目。 更新的技术现在变得可用， 将输入DNA的片段作为长或连接的读段。长读段平台可以在 每次读取100，000个碱基对，尽管具有非常高的错误率和低吞吐量。链接读取 平台可以关联类似长度的多个读段，尽管数据包含许多 差距。尽管如此，如果再加上生物信息学工具，可以利用丰富的信息， 这些新的测序平台将开辟健康研究的新领域。 博士Birol正在寻求更新他的NIH资金，以便他可以开发专门的软件， 将快速、准确、高效地组装和分析长序列和链接序列读数。 这些工具将在一系列项目中提供先进的能力，例如跟踪 传染病爆发，利用遗传信息选择最佳药物来治疗 个体患者的癌症以及其他应用。 这些新工具将在网上免费提供给其他非营利研究人员， 拥有自己的测序项目，使世界各地的团队能够在健康方面取得更快的进展 research.

SUMMARY This grant renewal proposal is about developing innovative new software that will allow health researchers to take advantage of new advances in DNA sequencing. Over the last decade, technology advances have made DNA sequencing a routine and cost- effective method in many fields of life sciences research. The dominant technology today generates millions of short sequences, consisting of 75-300 base pairs (the “letters” that make up the DNA sequence). These short “reads” have to be assembled in the right order to make sense of the data. Dr. Birol and his team are world leaders in genome assembly, and the award- winning software they have developed (with support from their existing NIH grant and other funding) has been used in diverse DNA sequencing projects, including The Cancer Genome Atlas project. Newer technologies are now becoming available that generate information on much longer stretches of the input DNA as long or linked reads. Long read platforms can sequence over 100,000 base pairs per read, though with a very high error rate and low throughput. Linked read platforms can associate multiple reads over similar lengths, although the data contains many gaps. Still, if coupled with bioinformatics tools that can leverage the rich information they provide, these new sequencing platforms will open new frontiers in health research. Dr. Birol is seeking to renew his NIH funding so that he can develop specialized software that will quickly, accurately, and efficiently assemble and analyse long and linked sequence reads. These tools would provide advanced capabilities in a range of projects, such as tracking infectious disease outbreaks, using genetic information to select the best drugs to treat an individual patient's cancer, and other applications. The new tools will be made available online free for other non-profit researchers to use in their own sequencing projects, allowing teams around the world to make faster progress in health research.