publications and white papers - Variant Classification

PUBLICATIONS and Posters

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

NGS Validation

Validating Next Generation Sequencing For use in Clinical Lab Practice


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

Discovery of new genes using Genoox’s automated algorithms


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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