Article

The MorbidGenes panel: a monthly updated list of diagnostically relevant rare disease genes derived from diverse sources

2024-04-15

Abstract excerpt

<h4>Purpose</h4> With exome sequencing now standard, diagnostic labs are in need of a, in principle, to-the-day-accurate list of genes associated with rare diseases. Manual curation efforts are slow and often disease specific, while efforts relying on single sources are too inaccurate and may result in false-positive or false-negative genes. <h4>Methods</h4> We established the MorbidGenes panel based on a list of...

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Literature Corpus work: 861be80f-72b3-53f2-82ee-3286dea28438
DOI: 10.1101/2024.04.15.24305833

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