Article

Re-evaluation and Re-analysis of 152 research exomes five years after the initial report reveals clinically relevant changes in 20%

2022-10-01

Abstract excerpt

<h4>ABSTRACT</h4> Iterative re-analysis of NGS results is not well investigated for published research cohorts of rare diseases. We revisited a cohort of 152 consanguineous families with developmental disorders (NDD) reported five years ago. We re-evaluated all reported variants according to diagnostic classification guidelines or our candidate gene scoring system (AutoCaSc) and systematically scored the validity...

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Literature Corpus work: 61f8b363-52c9-5fef-85c4-47bee8a4329b
DOI: 10.1101/2022.10.01.22280361

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