The Jackson Laboratory's Workshop on Long-Read Genomic Technologies

项目摘要 长读基因组技术已经确定了疾病的新基因组原因，如癌症，传染性疾病， 疾病，神经退行性疾病，肌肉萎缩症和其他疾病，由于其能力， 准确地识别结构变异和序列，通过基因组的重复区域相比，短， 读取测序。尽管事实上长读测序技术是相当新的，而且很少使用 在研究界。因此，有重大的机会了解更多关于人类基因组 以及健康和疾病，通过广泛采用长期阅读技术。为了更广泛地采用， 将大大受益于一个研讨会，涵盖了现有的长期阅读平台的利弊，如何 它们目前被科学界应用于回答研究问题，包括动手操作 教程涵盖了这些协议的技术执行。因此，我们建议每年举办一次为期4天的 杰克逊基因组医学实验室的长读序技术研讨会。我们将 利用我们在2018年成功举办的长读序测序试点研讨会的经验，我们将提供 为期两天的讲座，来自使用这些技术回答关键科学问题的领域领导者， 为期两天的动手技术实验和计算教程，重点是数据生成， 分析.我们将通过以下3个目标来实现这一目标：1）开发和提供一个为期4天的讲习班， 长期阅读基因组技术的科学家，将包括动手湿工作台和生物信息学教程， 以及由技术开发人员和专家用户领导的讲座; 2）创造一个环境， 通过促进想法的产生、讨论和合作来产生新的发现， 三是促进人才培养的多元化， 阅读基因组技术的发展。 参加者将在离开本研讨会时深入了解各种 长读段测序平台，何时以及如何最好地应用它们，以及基因组研究的现状 长读序测序技术。这将反过来鼓励适当使用长读 基因组测序项目，导致新的发现，将有助于了解和改善人类健康。

PROJECT SUMMARY Long-read genomic technologies have identified new genomic causes of diseases, such as cancers, infectious diseases, neurodegenerative diseases, muscular dystrophy, and other conditions, due to its ability to more accurately identify structural variants and sequence through repetitive regions of the genome compared to short- read sequencing. This is despite the fact that long-read sequencing technology is fairly new and sparsely used in the research community. Thus, there is significant opportunity to understand more about the human genome and health and disease via the widespread adoption of long-read technologies. For greater adoption, the field will significantly benefit from a workshop that covers the pros and cons of the existing long-read platforms, how they are currently applied by the scientific community to answer research questions, and includes hands-on tutorials covering the technical execution of these protocols. Therefore, we propose to host an annual 4-day workshop on long-read sequencing technologies at The Jackson Laboratory for Genomic Medicine. We will leverage our experience from a successful pilot workshop on long-read sequencing in 2018, and we will deliver two days of lectures from field leaders who are using these technologies to answer key scientific questions and two days of hands-on technical experimental and computational tutorials focused on data generation and analysis. We will do this through the following 3 aims: 1) To develop and deliver a 4-day workshop to train young scientists on long-read genomic technologies that will include hands-on wet bench and bioinformatics tutorials, and lectures led by technology developers and expert users; 2) To create an environment that will expand the field of long-read sequencing by fostering idea generation, discussion, and collaboration to yield new discoveries, better applications, and increase technology development; 3) To promote diversity in culturing talents in long- read genomic technology development. Participants will leave this workshop with an in-depth understanding of the benefits and challenges of various long-read sequencing platforms, when and how best to apply them, and the current state of genomic research with long-read sequencing technologies. This will, in turn, encourage the appropriate use of long-read sequencing in genomics project, leading to new discoveries that will help understand and improve human health.