Article

AUTOMATED VERSUS MANUAL REANALYSIS IN RARE DISEASE GENOMICS

2026-05-19

Abstract excerpt

<h4>Purpose</h4> Periodic reanalysis of genome sequencing data can yield additional diagnoses as knowledge evolves, yet manual reanalysis is labour-intensive. We compared automated and manual reanalysis approaches in rare disease genomics. <h4>Methods</h4> We reanalyzed 377 rare disease cases: 158 with pathogenic or likely pathogenic (P/LP) findings, 49 with variants of uncertain significance (VUS) findings, and...

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Literature Corpus work: 85faff12-60bc-513b-9ed7-3c4995ddc2d0
DOI: 10.64898/2026.05.16.26352295

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