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Eurostarsproject E!10942 DNANext Uppsala University

Reference number
Coordinator Uppsala universitet - Inst Immunologi, Genetik patologi
Funding from Vinnova SEK 1 410 490
Project duration March 2017 - March 2019
Status Completed
Venture Eurostars

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.

External links

The project description has been provided by the project members themselves and the text has not been looked at by our editors.

Last updated 20 March 2019

Reference number 2017-00982

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