The last 15 years has seen a drop in the cost of lab technology for Whole Genome Sequencing (WGS) from $300,000,000 to $1,000. The GAP project seeks to optimize the ICT infrastructure required to support and enable WGS, bridging the gap between the low cost of sequencing and high cost of analysis to enable widespread clinical use of WGS.
Bringing WGS to the masses
Chromosomal abnormalities are one of the main causes of early pregnancy loss. Zooming in on in vitro fertilization, assisted reproductive technology could be improved by using WGS to identify and select embryos without abnormalities. Similarly, WGS is uniquely positioned to enable the early diagnosis of genetic disorders and rare diseases, but it is not currently common within national healthcare systems. Reducing the costs of IT infrastructure for WGS and enabling it to be used on a widespread basis means faster intervention and better healthcare outcomes.
Obstacles to large-scale genome analysis
Today’s clinical sequencing technologies cover only a tiny portion of the entire genome or target specific genes. The reason: storage and computing requirements for full-scale analysis are nearly impossible to meet. Another obstacle to widespread and cohesive use of WGS is the fact that current genome analysis software is chunky and diffuse, and petabytes of data need to be stored and quickly accessed. Meanwhile, multiple companies with niche specializations need to align to form a collaborative ecosystem for large-scale genome analysis to become a reality.
Two demonstrated proofs-of-concept
With these challenges in mind, the GAP consortium intends to develop:
- the GAP platform – a proof-of-concept ICT platform that supports the end-to-end clinical analysis of whole genome sequences;
- the Federated Analytics Platform – which will be used in the context of phenotype analysis for rare diseases to optimize speed and accuracy.
Furthermore, the project seeks to embed the software artefacts it develops into the product offerings of partner companies.
Genome analysis meets the cloud
The consortium’s team of expertise covers clinical genetic assessment, genetic diseases, data analytics, cloud-based genomics services, cloud platforms and high-performance computing for life sciences applications. All GAP partners are located in close proximity to facilitate cross-functional collaboration.
“The GAP project seeks to optimize the ICT infrastructure required to support and enable Whole Genome Sequencing. Its aim is to bridge the gap between the low cost of sequencing and the high cost of analysis to enable widespread clinical use of WGS.”
Genomic Analytics Platform
GAP is an imec.icon research project funded by imec and Agentschap Innoveren & Ondernemen.
It started on 01.04.2017 and is set to run until 31.03.2019.
- Agilent Technologies Belgium
- Bluebee Belgium
- imec - ExaScience Life Lab
- imec - IDLab - UGent
- imec - STADIUS - KU Leuven
- KU Leuven - Human Genetics
- Project lead: Kurt Florus
- Research lead: Yves Moreau
- Innovation Manager: Dirk Hamelinck