Multiplexing methods to reduce sequencing costs

多重方法可降低测序成本

• 批准号: 10081723
• 负责人: Atray Dixit
• 金额: $ 79.46万
• 依托单位: CORAL GENOMICS, INC.
• 依托单位国家: 美国
• 财政年份: 2019
• 资助国家: 美国
• 起止时间: 2019-09-01 至 2022-08-31
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/10081723
• 关键词: Achievement; Address; Adoption; Advanced Development; Algorithms; Analgesics; Archives; Area; Bar Codes; Biotechnology; Businesses; Clinic; Clinical; Collaborations; Coronary Arteriosclerosis; Cost Savings; Cost utility; DNA Sequence; Data; Data Set; Development; Diagnosis; Ensure; Feedback; Foundations; Genetic Variation; Genome; Genomics; Genotype; Goals; Health Services; Health system; Healthcare; Healthcare Systems; Hour; Human Genome; Inflammatory Bowel Diseases; Infrastructure; Intervention; Libraries; Methods; Microscope; Molecular; Patient Care; Patients; Pharmacogenomics; Phase; Pilot Projects; Population; Population Heterogeneity; Positioning Attribute; Precision therapeutics; Preparation; Process; Research; Running; Sampling; Services; Technology; Therapeutic Intervention; Time; Variant; Wait Time; Work; base; biobank; clinical application; clinical sequencing; clinically relevant; cloud based; cohort; commercialization; coral; cost; design; disorder risk; drug response prediction; empowered; exome; exome sequencing; genome sequencing; improved; indexing; innovation; instrumentation; inter-institutional; next generation sequencing; novel; personalized health care; whole genome

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.

项目摘要 下一代测序（NGS）技术已经使重大发现和临床应用从 基因型数据。特别地，快速浅全基因组测序（WGS）和全外显子组测序（EUS）可以被用于在基因组测序中使用。 (WES)有能力彻底改变医疗干预。对浅层WGS和WES的需求 爆炸，并预计将继续增加。然而，尽管仪器有了进步， 浅层WGS和WES的边际成本由于样品制备方法效率低下而趋于稳定， 简单化的样本池方法。而且，测序结果的周转时间长达数周 这对该技术在临床上的广泛应用提出了重大障碍。 Coral Genomics正在为大规模并行WGS和WES开发一种新的快速浅层测序技术， 在测序完成后数小时内提供临床相关预测。我们已经开发出一种新 样品池方法能够在不到1周的等待时间内对数百个样品进行测序。与 我们的方法，我们已经减少了50%的测序成本。随着我们图书馆准备工作的不断发展， 我们希望通过这一战略，进一步扩大样品处理规模，同时进一步降低成本。我们 他们还开发了一个实时分析平台，能够在测序后2小时内返回变异呼叫 建成我们的专有数据集将遗传变异与药物反应预测相关联，开发于- 房子，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，开发一个平台，以极快的反馈 以显著降低的成本进行大规模的临床样品。我们预计将带来的成本浅 WGS和WES的覆盖范围降低到每个样品15美元或更低，同时提供极快的周转时间。 具体来说，我们有一个坚实的基础，以确定多基因评分为基础的适应症，炎症性肠病 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 例 该项目的成功完成将产生一个商业上可行的和具有高度竞争力的NGS 定位于革新个性化医疗保健的服务。