Article

AXOLOTL: an accurate method for detecting aberrant gene expression in rare diseases using coexpression constraints

2024-01-07

Abstract excerpt

<h4>Background</h4> The assessment of aberrant transcription events in patients with rare diseases holds promise for significantly enhancing the prioritization of causative genes, a practice already widely employed in clinical settings to increase diagnostic accuracy. Nevertheless, the entangled correlation between genes presents a substantial challenge for accurate identification of causal genes in clinical diag...

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Literature Corpus work: 236bdca5-7f14-5d9f-a52b-6af158208176
DOI: 10.1101/2024.01.07.574502

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