Abstracts, Posters, Oral Presentations

Find out how our clients made new discoveries using the Genoox platform

Benchmarking an Automated Variant Classification Engine (aVCE) Algorithm Using ClinVar

Results of a Time-Capsule Experiment

The Genoox aVCE was ‘trained’ on the ClinVar database (version 30-06-17). Variants with Reference/Submission ClinVar (RCV/SCV) creation dates before and after 01-07-16 were marked as ‘Train’ and ‘Test,’ respectively.

When compared against ClinVar submissions from clinical laboratories and high-certainty entries, the proprietary aVCE classified clinically ‘actionable’ (P/LP) and ‘non-actionable’ (VUS/LB/B) variants with very high sensitivity (99.29%, 1262/1271) and specificity (100%).

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Rare disease discovery

First Case Report in the Balkans: Trio Clinical Exome Sequencing in a Patient With Multicentric Carpotarsal Osteolysis Syndrome

Testing the proband and her parents led to the identification of a de novo mutation c.188C>T (p.Pro63Leu) in the MAFB gene, which is known to cause multicentric carpotarsal osteolysis syndrome (MCTO).

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NGS validation

Comparing exome performance and Sanger-sequencing in the clinical setting

Clinical uses of Next Generation Sequencing (NGS) are continually expanding as the cost of the technology falls while clinical utility increases at a rapid rate., What was once a “last resort” technique for exceptional cases in which a molecular diagnosis could not be achieved by standards means has now become a routine test allowing physicians to translate genomic information into clinically actionable decisions.

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Rare disease discovery

Genoox reveals loss of Glycine Transporter 1 Causes a Subtype of Glycine Encephalopathy with Arthrogryposis and Mildly Elevated Cerebrospinal Fluid Glycine

The Genoox sophisticated interpretation engine provides both automatic annotation and classification of variants, as well as advanced sample comparison and the ability to analyze families and examine different inheritance models, providing rapid clinical answers in minutes rather than hours or days.

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Rare disease discovery

Genoox reveals loss of CD55 in eculizumab-responsive protein-losing enteropathy

Rambam medical center leverages the Genoox platform to reveal how a homozygous frameshift variant in CD55 segregates with protein-losing enteropathy associated with hypercoagulability, using WES. These findings influences the treatment strategy were the patients were treated with the terminal complement inhibitor eculizumab, which has proven therapeutic benefits in other disorders of complement dysregulation, such as CD59 deficiency.

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