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

摘要 这项拨款续期提案是关于开发创新的新软件，使健康 研究人员将利用DNA测序方面的新进展。 在过去的十年里，技术的进步使DNA测序成为例行公事和成本- 在生命科学研究的许多领域都是有效的方法。一开始的主导技术 产生了数百万个短序列，由75-300个碱基对( 组成DNA序列的“字母”)。这些短小的“读数”必须在 正确的顺序来理解数据。比罗尔博士和他的团队是基因组领域的世界领先者 汇编和他们开发的获奖软件(在他们的支持下 现有的NIH拨款和其他资金)已用于各种DNA测序项目， 包括癌症基因组图谱项目。 现在有了更新的技术，可以在更长的范围内生成信息 以长读或链接读的形式输入DNA。长阅读平台可以测序超过100,000个碱基对 每次读取，尽管具有相对较高的错误率。链接阅读平台可以关联多个 阅读的长度相似，尽管数据包含许多差距。尽管如此，当与 生物信息学工具可以利用它们提供的丰富信息，这些新的测序 平台开辟了健康研究的新领域。 比罗尔博士正在寻求延长他对NIH的资金支持，这样他和他的团队就可以 维护以继续快速、准确和高效地开发专门的软件 组装和分析长的和相连的序列读数。这些工具提供高级 在一系列项目中的能力，如跟踪传染病暴发，使用基因 选择治疗个别患者癌症的最佳药物的信息，以及其他 申请。 这些新工具正在网上免费提供给其他非营利性研究人员使用 他们自己的测序项目，使世界各地的团队在 健康研究。

Summary This grant renewal proposal is about developing innovative new software that 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 at the start of our project generated 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 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 relatively high error rate. Linked read platforms can associate multiple reads over similar lengths, although the data contains many gaps. Still, when coupled with bioinformatics tools that can leverage the rich information they provide, these new sequencing platforms open new frontiers in health research. Dr. Birol is seeking to extend his NIH funding support so that he and his team can be maintained to continue developing specialized software that quickly, accurately, and efficiently assemble and analyse long and linked sequence reads. These tools 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 are being 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.