
reinterpretation of sequence variants using artificial intelligence
December 20, 2021 12:33 pm Leave your thoughtsEvaluating 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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