GAP-platform: Cost-Effective, Local Sequence Data Analysis Expedited Via Cloud Computing

Network 4851119 1920

We have come a long way in the understanding and elucidation of DNA since the 1953 Nature publication of the structure by Watson and Crick 66 years ago - celebrated today as the National DNA Day.

The list of significant milestones reached since those early days – Sanger sequencing methodology, automated DNA sequencer, $1,000 USD Genome, the completion of various large scale projects such as the 100K Genomes Project - would not have been possible without the technological advancements in the area of sequence data generation, analysis, management, storage, and insight extraction to name a few. These achievements in turn led to significant progress in many other fields including research on molecular disease targets and pathways, drug discovery, disease diagnosis and treatment, and precision medicine applications. Clinical sequencing – gene panels, whole exomes, and whole genomes - is nowadays common practice.

Another significant milestone which we are proud to announced today is the closing of the GAP (Genomics Application Platform)-project that the BlueBee team contributed significantly to - in collaboration with imec and other partners - see the full list of contributing partners below. Via the GAP-project we have overcome some major hurdles to make whole genome sequencing cost-effective and applicable for daily use in a hospital setting.

Read the full press release here.

Hallmarks of the GAP project

  • A fully funded project with the goal to make clinical genomics cost-effective for daily use in hospital settings
  • Development of a set of hardware and software solutions to make whole genome sequencing ready for clinical and acceptable for societal use
  • The GAP Consortium/contributing partners: Ghent University, KU Leuven, imec, Western Digital, and Agilent, in addition to BlueBee

Today imec and partners reveal the GAP-platform

  • GAP is a unique platform that performs a genome sequencing analysis in only 48 hours and this cost-efficiently.
  • GAP paves the way to genome sequencing as a daily practice in hospitals, for diagnosing and treating genetic diseases, including cancer and rare diseases, and for improved diagnosis and treatment of newborns with complex disorders.

Although genome sequencing has dramatically decreased in cost - soon to near $100 USD per genome - cost-efficient sequencing is not the entire story for to the realization of personalized medicine. Turning the raw sequencing data into ‘knowledge’ and useful information for doctors, requires a lot of compute and storage power too –

  • We have tackled the genome analytical challenges with the GAP project, an important component for targeted treatment of patients in the context of daily clinical operations.
  • The GAP-platform consists of a combined compute and storage hardware rack from Western Digital that runs a heavily optimized genomics analytics that can also tap into the cloud (BlueBee Genomics Cloud) if needed.
  • This solution can process the full output of a sequencing machine (48 genomes) within 48 hours, the same time it takes the sequencing machine to produce the raw genome data.

The new GAP-platform is a hybrid solution that combines the best of both worlds:

  • Cost-effective analysis at a local site
  • Faster analysis involving cloud computing

We at BlueBee are excited to have been a key partner by providing the highly secured and scalable computational analysis solution that enables high speed and high volume analytics for the GAP-platform. Furthermore, it is very exciting for us to see the GAP-platform already in action via its integration into the Agilent OnePGT solution. Agilent OnePGT providesinsights for every IVF transfer with a single genome-wide NGS workflow integrating preimplantation genetic testing for single gene disorders (PGT-M), translocations (PGT-SR), and aneuploidy testing (PGT-A) including verified automatic data analysis software with built-in QC metrics.

To conclude, what better way is there than to celebrate this major achievement in the context of the GAP Consortium organized “Closing event of GAP” that will highlight advancements in genomics medicine and related applications/solutions, which will take place today, April 25, in Leuven.

Closing event of GAP – Join us!

  • Date: April 25, 2019
  • Time: 9:30 – 19.30
  • Location: imec 1, Auditorium - Kapeldreef 75, 3001 Leuven
  • Agenda overview:
    • Morning session: Strategy for Genomics Medicine in Europe
    • Evening: Networking
    • Afternoon session: Overview of the Genomics Application Platform

Email the BlueBee team to discuss your clinical data challenges and to learn more about the GAP-platform first-hand. We look forward to hearing from you and welcoming you to the “Closing Event of GAP”.