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Increase Diagnostic Yield with Class-Leading Variant Prioritization
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"Increase Diagnostic Yield with Class-Leading Variant Prioritization"

To interpret exome data for rare disease diagnostics, geneticists must identify the one or two mutations responsible for a patient’s condition hidden among 40,000 variants.

This process can take between 20 and 40 hours and requires highly skilled staff using specialized software, resulting in backlogs of cases and extended diagnostic odysseys.

This white paper describes Exomiser – a variant prioritization tool that greatly speeds up this process and enables geneticists to make faster, more accurate diagnoses and achieve a consistently higher diagnostic yield than industry averages and alternative solutions across all diseases, sample types and family structures. This means increased throughput of cases and better analysis outcomes from NGS data.


Offered Free by: Congenica
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