The Health 2030 Genome Center Sequencing Platform has been established to meet the project’s data generation and analysis goals. The goal of the platform is to provide timely, cost-efficient sequencing and data analysis for the large-scale sequencing projects of the Swiss research and clinical communities.

Implementation of the Sequencing Platform began in 2017 and will be fully implemented in 2018 with the hiring of laboratory and bioinformatic staff, as well as the installation of a range of instruments.

Starting with purified gDNA or total RNAs provided by the user, the Sequencing Platform services include 1) sample quality assessments, 2) sequencing library preparation and sequencing, and 3) post-run data quality assessments and processing. The Health 2030 Genome Center Data Analytics Platform will both develop methods for genome and transcriptome analysis and apply them as a service to users.

The assay focus of the Sequencing Platform is on whole genome sequencing (WGS), whole exome sequencing (WES) and full transcriptome sequencing (RNA-seq).

Hamilton liquid handling robots, as well as different analytical instruments, are available to support nucleic acid sample quality control and automated sequencing library preparation.

Illumina NovaSeq 6000, HiSeq 4000 and MiSeq sequencers are installed to support services as well as method development activities.

Finally, in collaboration with Vital-IT of the SIB/Swiss Institute of Bioinformatics, the Genome Center has established a data storage and analysis infrastructure to support its sequencing and data analysis activities.