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Article

AI in Variant Analysis: Fast Track to Genetic Diagnoses

2026-03-12

Abstract excerpt

While falling costs have increased access to genomic sequencing, the impact of clinical sequencing is often hindered by the challenge of interpreting complex genetic data. The high prevalence of variants of unknown significance (VUSs) can lead to false reassurance or psychological distress, as patients and non-expert clinicians may misinterpret inconclusive results. We propose that artificial intelligence (AI) may...

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Literature Corpus work
8e4baf92-cfaa-52dd-a5e5-04da72230d05
DOI
10.20944/preprints202603.1025.v1
Open publication

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AI in Variant Analysis: Fast Track to Genetic DiagnosesDOI 10.20944/preprints202603.1025.v1
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