Directing genome diagnostics towards a Higher Yield, Personalization, Efficiency and Robustness.
Diagnostics, Innovation, Project Management
Health-Holland / TKI – Grant ID LSHM16005
1 May 2016 to 1 January 2018
In 2016, GenomeScan led a collaborative initiative to improve molecular NGS diagnostics (HYPER: Higher Yield, Personalization, Efficiency and Robustness). The HYPER consortium, consisting of the LUMC, EMC and GenomeScan, obtained funding to work on four main tasks: (1) combining WES with RNA-Seq to improve diagnostic yield; (2) Determining CNV with low-pass NGS, (3) Detecting repeat expansions by means of WES data and (4) Improving the Bio-IT analysis pipelines for WES.
The HYPER consortium has contributed to increasing the number of diagnoses for patients with hereditary disorders. Consortium efforts have led to innovations in the performance of multiple gene tests, including Whole Exome Sequencing (WES). The partners achieved a sharp turnaround time reduction of 2 to 3 weeks and decreased cost per WES testing by ~ 20%.
This collaboration project is co-funded by the PPP Allowance made available by Health~Holland, Top Sector Life Sciences & Health, to TNO to stimulate public-private partnerships.