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

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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.