Fabric Enterprise™ is an end-to-end computational genomics platform supporting high throughput panels, exomes and genomes for hereditary disease and oncology. Platform capabilities include: alignment and variant calling, annotation, curation, guideline-driven variant classification and interpretation from FASTQ or VCF files to clinical report.
Standard offers 10x faster FASTQ to VCF compared with the standard BWA-GATK tools, including 20-50x faster variant calling. Unlike GATK, Standard has no down-sampling of reads and is deterministic, even when run on multiple threads. This leads to more accurate scientific results and better overall efficiency during secondary analysis.
BioGraph is a compressed index file format that stores how all reads connect with one another. This enables accurate structural variation detection with a low false discovery rate. Multiple BioGraph files can be merged together into a single structure, allowing for accurate comparisons between cohorts and harmonization of disparate datasets.
Fabric Genomics offers advanced lossless compression technology that reduces the size of FASTQ and BAM files by 50%. This allows institutions to stretch their storage infrastucture further, delaying the need to purchase additional space.
Fabric Genomics reduces turnaround time and operating costs using highly automated variant annotation, classification, and clinical reporting capabilities. Our lab director dashboards, ACMG guideline-driven variant scoring interface, batch processing functionality, proprietary algorithms, and 90+ annotations allow scientists to be consistent and confident in their variant classification and reporting.
Fabric Genomics’ industry-leading variant prioritization algorithms, VAAST (Variant Annotation, Analysis, and Search Tool) and Phevor (Phenotype Driven Variant Ontological Re-ranking tool) offer unparalleled specificity and accuracy in identifying the causal mutation(s) in high complexity situations like pediatric clinical odyssey cases and country sequencing projects. Our scientists have optimized large scale genomic data, delivering annotations of exomes in less than 10 seconds and genomes in less than 10 minutes.
Case-control studies can identify genes previously only found in familial studies, even when variants are extremely rare. Much larger sample sizes are needed to identify novel susceptibility genes with genome-wide significance. Variant prioritization algorithms like Fabric Genomics’ updated VAAST ranking algorithm can significantly improve statistical effect size estimates.
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Clinic-ready workflows and quality.
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Comprehensive data and network security and regulatory compliance programs.
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Algorithms, clinical standards, and technology to drive scientific accuracy and efficiency.
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Custom solutions for specific project needs.
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Cloud and on-site storage, including lossless compression options.
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Offering “Beacon”– an open web service, designed for collaboration between clinical laboratories and healthcare professionals without compromising patient privacy.
