Fabric GEM utilizes AI to enable accurate and near-instant identification of disease-causing genes in WGS & WES
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More needles. Less haystack.
Setting a new standard for diagnostic accuracy, Fabric GEM delivers advanced AI to rank the disease-causing variant at the top after a multi-dimensional analysis of all variants. Diagnostic acceleration and supporting data transparency allow labs to confidently scale their testing volume.
15 min
average clinical review time
10X
more cases with the same team
98%
of causal variants ranked in the top 5*‡
5-10%
new diagnoses from
re-analysis
*data from Fabric GEM validation at Rady Children’s Institute for Genomic Medicine
‡ in retrospective study
More needles. Less haystack.
Leveraging proprietary algorithms, the largest public and proprietary datasets, and intelligent integration with phenotypic data, Fabric GEM prioritizes the disease-causing needle at the top of the haystack, getting you to an accurate diagnosis in record time.
5X
More cases with the same team
98%
Of causal variants ranked in top 5*
5-10%
New diagnoses from re-analysis
*data from Fabric GEM testing at Rady Children’s Institute for Genomic Medicine
Highlights of Fabric GEM
Fast
Near-instant identification of causative disease genes with clear supporting evidence
Robust
IDs common sequencing artifacts and cryptic ancestry; predicts consanguinity and inheritance mode, evaluates both small and structural variants
Beyond
Takes advantage of automated deep phenotyping to deliver accurate genomic interpretation
Greater accuracy for faster clinical review
Clinical labs running WES/WGS workflows today can spend 24 hours or longer reviewing and evaluating potential candidate variants. With traditional filtering techniques, these reviews can consist of hundreds of candidates.
Fabric GEM employs advanced AI, and leverages genomic, phenotypic and clinical data to identify a short list of causal candidates without losing sensitivity. While most interpretation platforms require a review of 20 to 50 candidates to find the causal variant, Fabric GEM technology prioritizes variants, reducing the typical number of candidates for review to fewer than five. This efficiency significantly reduces clinical review so your lab has the bandwidth to solve more cases.
In recent studies in the pediatric setting, Fabric GEM ranked the causal gene in the top 1 or 2 in 90% of cases, the top 5 in 98% of cases and the top 10 in 100% of cases*. When other AI and interpretation solutions report ranking in the top 20 to 50 candidates, Fabric AI, especially now with Fabric GEM, consistently reduces clinical review.
Fabric GEM: Our most accurate genomic interpretation platform ever
0%
Causal variant is
1st or 2nd candidate*
0%
Causal variant in
top 5 list*
0%
Causal variant in
top 10 list*
*data from Fabric GEM validation at Rady Children’s Institute for Genomic Medicine
†Fabric AI VAST and Phevor, data from UK 100,000 Genomes Project as reported at ESHG 2018
Diverse use cases
Fabric GEM has been validated in multiple clinical settings, demonstrating broad utility for WES & WGS testing
Rare & undiagnosed diseases
Ultra-rapid NICU & PICU cases
Re-analysis of negative cases
Solos and nuclear families
Case study:
Rady Children's Institute
Fabric GEM significantly accelerates genomic interpretation by reducing clinical review. At Rady Children’s Institute for Genomic Medicine, speed is of the essence for urgently sick babies in the NICU. Rady Children’s Institute employs Fabric AI to significantly shorten the clinical review stage. Fabric GEM provides the next generation capabilities to further accelerate interpretation.
Watch the webinar to see more details about the impact of Fabric GEM at Rady’s Children’s Institute for Genomic Medicine
Fabric GEM reduces clinical review time by >90%
Clinical genomics produce huge amounts of data in a very short time, and review of that data is the bottleneck in clinical workflows. For childhood diseases and time-sensitive medical conditions where delays in treatment can be life-changing, reducing time to diagnosis can significantly improve outcomes and quality of life.
Fabric GEM enables a whole new level of automation, speed, and accuracy; empowering lab directors and physicians to truly scale their NGS diagnostics. Fabric GEM has been validated with hundreds of cases at multiple collaborator centers.
Fabric GEM beats others in speeding up interpretation by reducing review to an average of just 2 genes per case*
*For single proband cases. No SVs
Better knowledge synthesis
Fabric GEM combines agnostic variant search with clinical knowledge to deliver accurate causal gene candidate determination. Fabric GEM builds on Fabric’s groundbreaking algorithms, VAAST and Phevor, combining them with diverse clinical sources and condition-gene databases such as OMIM and clinical variant databases including ClinVar.
Fabric GEM also incorporates Truploidy, a Fabric AI algorithm that predicts consanguinity based on analysis of segments of hom*ozygosity, and adjusts for penetrance based on data.
Fabric GEM: The next generation AI for rare genetic disease
Interested in experiencing how Fabric GEM can accelerate your clinical diagnostics?
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