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

项目总结 长期阅读的基因组技术已经确定了导致疾病的新的基因组原因，如癌症、传染性 疾病、神经退行性疾病、肌营养不良等情况，因其能力较强 与短序列相比，通过基因组的重复区域准确识别结构变体和序列 阅读排序。尽管长阅读测序技术是相当新的，而且很少使用，但这一事实仍然存在 在研究界。因此，有很大机会更多地了解人类基因组。 以及健康和疾病，通过广泛采用长期阅读的技术。为了更好地采用，现场 将从一个涵盖现有长期阅读平台的利弊的研讨会中受益匪浅，如何 它们目前被科学界用来回答研究问题，包括亲身实践 涵盖这些协议的技术执行的教程。因此，我们建议每年举办为期4天的 杰克逊基因组医学实验室长读测序技术研讨会。我们会 利用我们在2018年成功举办的长读测序试点研讨会的经验，我们将提供 来自现场领导者的为期两天的讲座，他们正在使用这些技术来回答关键的科学问题和 为期两天的动手技术实验和计算教程，重点是数据生成和 分析。我们将通过以下三个目标来实现这一点：1)开发和提供为期4天的研讨会，以培训年轻人 科学家们正在研究长期阅读的基因组技术，其中将包括亲身实践的湿板凳和生物信息学教程， 以及由技术开发人员和专家用户主持的讲座；2)创造一个环境，以扩大 通过促进想法的产生、讨论和合作来产生新的发现， 加强应用，加大技术开发力度；3)促进人才培养多元化。 阅读基因组技术发展。 学员在离开研讨会时，将深入了解各种 长时间阅读测序平台，何时和如何最好地应用它们，以及基因组研究的当前状态 以及长时间阅读的测序技术。这反过来将鼓励适当地使用长期阅读的 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.