Article
AI in Variant Analysis: Fast Track to Genetic Diagnoses
2026-04-10
Abstract excerpt
While falling costs have expanded access to genomic sequencing, clinical utility is frequently hindered by the challenge of interpreting complex genetic data. Although advances in genetic variant classification have improved diagnostic precision, they have also increased the identification of variants of uncertain significance (VUSs), widening the interpretation gap between data generation and clinical actionabili...
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Identifiers and source
- Literature Corpus work
- ea11259b-dd6f-5e08-9569-91bb86bc9925
- DOI
- 10.20944/preprints202603.1025.v2