Oxford Nanopore Technologies and Fabric Genomics Introduce Pediatric Genome Sequencing Solution

The collaborative work will deliver a comprehensive, quick nanopore sequencing analytical platform tailored for neonatal/pediatric intensive care units, assisting doctors in emergency situations.

Oxford Nanopore Technologies plc and Fabric Genomics collaborate to develop a scalable software solution for complete genomic data analysis and clinical reporting utilizing advanced AI-driven techniques.

Approximately 2.8 million children in the US are identified with rare genetic disorders. The forthcoming joint solution, deployable in CLIA/CAP labs, aims to apply nanopore sequencing in pediatric care, offering enhanced data and swift insights for characterizing genetic disorders in acute settings.

“For this incredibly high-risk patient population, speed and data-rich insights matter. We are excited to team up with Fabric Genomics to develop an end-to-end analysis tool for the clinical reporting of nanopore sequencing data in paediatric care settings that will make it easier for healthcare providers to leverage genetic insights and, in the future, support the health and wellbeing of children and families,” remarked Gordon Sanghera, PhD, CEO of Oxford Nanopore Technologies.

Fabric Genomics and Oxford Nanopore collaborated on the streamlined approach, which provides a user-friendly solution for evaluating data-rich nanopore reads. This includes clinical data and interpretation from Fabric’s clinical geneticist network. Future ambitions include remedies for late-onset hereditary disorders such as cancer and cardiovascular disease.

“We’re excited to partner with the fast-driving team at Oxford Nanopore to integrate our AI-driven whole-genome sequence solution with nanopore sequencing and help to accelerate the adoption of that technology in the clinic,” stated Martin Reese, PhD, CEO and co-founder of Fabric Genomics.  “Oxford Nanopore’s real-time genomic reading technology represents an important opportunity to speed critical analysis of children’s genomes in NICU settings and for all genomic medicine patients.”

The newly launched platform, currently accessible to select customers, will be broadly available by Q1 2024. It will utilize Fabric GEM, an advanced AI algorithm, aiding healthcare providers in analyzing structural variants and potential pathogenic mutations, streamlining the process and minimizing expenses.

Fabric Genomics collaborated with Rady Children’s Institute for Genomic Medicine, expediting rare genetic disease diagnoses. Their joint effort demonstrated Fabric AI GEM’s ability to predict causative variants in genomes of previously diagnosed newborns and rare disease patients.

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