reinterpretation of sequence variants using artificial intelligence

Evaluating Genoox AI Engine as a Tool For Performing Variant Reinterpretation

These benchmarking results demonstrate the aiVCE’s ability to classify variants at a high rate of concordance with expert curation. The high level of agreement with challenging variants, such as those in the Discordant Dataset, makes the aiVCE ideal to expedite reinterpretation of variants accumulated over time. The aiVCE can be designed to monitor and alert the lab of variants with significant classification changes at predetermined time intervals.

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