Eurostarsproject E!10942 DNANext Uppsala University
|Coordinator||Uppsala universitet - Inst Immunologi, Genetik patologi|
|Funding from Vinnova||SEK 1 410 490|
|Project duration||March 2017 - March 2019|
Purpose and goal
DNA sequencing technologies are revolutionizing the way diseases are diagnosed. Targeted enrichment solutions allow one to answer specific biological or clinical questions in an effective and cost efficient manner, by focusing on the medically relevant genes. This project aimed to provide a new high-quality solution (Xdrop) for targeted sequencing and to demonstrate the usefulness of the system in important clinical applications including cancer and infectious disease.
Expected results and effects
The project has delivered an Xdrop prototype consisting of an advanced microfluidic system and kits containing the necessary reagents to perform targeted enrichment. The enrichment workflow has been integrated with long-read sequencing technologies (PacBio and Oxford Nanopore) available at SciLifeLab/Uppsala University. This has resulted in new laboratory protocols as well as novel computational methods for sequence-based analysis of genes of clinical importance.
Planned approach and implementation
The following activities have been performed: i) development of laboratory protocols to make the target enrichment technology compatible with long-read sequencing ii) development of computational methods for quality control and data analysis iii) assessment of the method for diagnostics of cancer samples. We have also initiated a project to sequence complete full-length RNA molecules. Our results have been presented at international conferences and a preprint describing the method is published. During 2019 we will prepare two scientific articles for publishing.