Article

Gene-specific artificial intelligence-based variant classification engine: results of a time-capsule experiment

2019-07-23

Abstract excerpt

<h4>Background: </h4> Interpretation of genetic variation remains an impediment to cost-effective application of genomics to medicine. An advanced artificial intelligence (AI)-based Variant Classification Engine (aiVCE), rooted in ACMG/AMP guidelines, employs data-driven methods to expedite gene-specific classification (franklin.genoox.com). In this blinded study, the aiVCE’s overall and rule-level performances we...

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Literature Corpus work: b8aca2a4-7502-5bc4-ba16-e3d50198cd8b
DOI: 10.21203/rs.2.11834/v1

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