Multiplexing methods to reduce sequencing costs

项目总结 下一代测序(NGS)技术使来自 基因分型数据。特别是，快速浅层全基因组测序(WGS)和全外显子组测序 (WES)有能力使医疗干预措施发生革命性变化。对浅层WGS和WES的需求 呈爆炸式增长，预计还会继续增加。然而，尽管仪器设备有了进步，但 浅层WGS和WES的边际成本停滞不前，原因是样品制备方法和 样本池的简化方法。此外，测序结果的周转时间为几周 这是广泛采用该技术用于临床的一个重大障碍。 珊瑚基因组公司正在开发一种新的快速浅层测序技术，用于大规模平行的WGS和WES， 在测序完成后数小时内提供临床相关预测。我们开发了一种新的 样本池方法能够在不到一周的等待时间内对数百个样本进行排序。使用 我们的方法，我们已经降低了50%的测序成本。随着我们图书馆建设的不断发展 随着战略的实施，我们预计将进一步扩大样品处理的规模，同时进一步降低成本。我们 我还开发了一个实时分析平台，能够在排序后2小时内返回变异呼叫 完成了。我们的专有数据集将遗传变异与药物反应预测联系起来，开发于- House，是现存最大的，并导致了几个新的多基因预测。有了这个数据集和我们的 协同技术，我们处于独特的地位，可以开发一个极快反馈的平台 以显著降低的成本对临床样本进行大规模的研究。我们预计会带来肤浅的成本 WGS和WES覆盖范围低至每个样品15美元或更低，同时提供极快的周转时间。 具体地说，我们在确定基于多基因评分的炎症性肠病适应证方面有很强的基础。 疾病、止痛药和冠状动脉疾病，并预测这些疾病的最佳治疗干预 案子。 该项目的成功完成将产生一个商业上可行且极具竞争力的NGS 旨在使个性化医疗保健发生革命性变化的服务。

PROJECT SUMMARY Next-generation sequencing (NGS) technology has enabled significant discoveries and clinical applications from genotype data. In particular, rapid shallow whole genome sequencing (WGS) and whole exome sequencing (WES) has the capacity to revolutionize healthcare interventions. The demand for shallow WGS and WES has exploded and is expected to continue to increase. However, despite the advancements in instrumentation, the marginal cost of shallow WGS and WES has plateaued due to inefficient methods of sample preparation and simplistic approaches to sample pooling. Moreover, the turnaround time of several weeks for sequencing results presents a significant barrier for wide adoption of the technology for clinical purposes. Coral Genomics is developing a new rapid shallow sequencing technology for massively parallel WGS and WES, providing clinically relevant predictions within hours of sequencing completion. We have developed a new sample pooling approach capable of sequencing hundreds of samples with less than 1 week of wait time. With our approach, we have reduced sequencing costs by 50%. With continued development of our library preparation strategy, we expect to further increase the scale of sample processing while also further reducing costs. We have also developed a real-time analysis platform capable of returning variant calls within 2 hours of sequencing completion. Our proprietary dataset associating genetic variations to drug response predictions, developed in- house, is the largest in existence and has led to several new polygenic predictions. With this dataset and our synergistic technologies, we are in the unique position to develop a platform for extremely rapid feedback on clinical samples on a large scale at significantly reduced cost. We expect to bring the cost of shallow coverage WGS and WES down to $15 or less per sample, while providing extremely rapid turnaround times. Specifically, we have a strong foundation for identifying polygenic-score based indications for inflammatory bowel disease, pain medications, and coronary artery disease, and predicting optimal therapeutic intervention in these cases. Successful completion of this project will produce a commercially viable and highly competitive NGS service that is positioned to revolutionize personalized health care.