Rare Disease Diagnostics | Fabric Genomics

Streamlined whole genome analysis for hereditary
rare disease

Turn diagnostic odysseys into answers with Fabric GEM, the world's fastest end-to-end WGS/WES interpretation pipeline

Solve your most important difficult applications

Rare disease

Rare and Undiagnosed Diseases

NICU-PICU

Ultra-rapid NICU & PICU cases

Re-analysis

Re-analysis of negative cases

families

Solos and nuclear families

Efficient data analysis

For childhood diseases and time-sensitive medical conditions, reducing the time to diagnosis can significantly improve outcomes and quality life.

Fabric GEM allows you to interpret whole genomes in ~15 minutes and prioritizes high-value diagnostic candidates, so you can focus your attention on a smaller number of high-value candidate genes. 

Average number of genes to achieve 90% diagnosis rate

Average number of genes to achieve 90% diagnosis rate
*For single probing cases. No SVs

Best in class accuracy

Cumulative causal candidates % in rank order
90%
Casual variant is
1st or 2nd candidate*
98%
Casual variant is
top 5 list*
99%
Casual variant is
top 10 list*

*data from Fabric GEM validation at Rady Children’s Institute for Genomic Medicine
+Fabric AI VAAST and Phevor, data from UK 100,000 Genomes Project as reported at ESHG 2018

Sign-out more cases/day

Fabric GEM enables an unprecedented level of
automation, speed and accuracy, breaking the
interpretation bottleneck in clinical workflows.

In a validation dataset at Rady Children’s Institute
for Genomic Medicine, Fabric GEM reduced clinical review by >90%, enabling 10x more cases with the same team.

See more details about the impact of Fabric GEM at Rady’s Children’s Institute for Genomic Medicine

Better Knowledge Synthesis for Difficult Cases

Fabric GEM leverages genomic, phenotypic, and clinical data to achieve extreme sensitivity

GEM

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