Article

Multi-omic re-analysis increases diagnostic yield in individuals with Cornelia de Lange syndrome

2026-03-23

Abstract excerpt

<title>Abstract</title> <p> <bold>Background</bold> Approximately half of the individuals with a clinically diagnosed Mendelian condition do not receive a molecular diagnosis. Current standard-of-care diagnostic pipelines, which are largely focused on exonic sequence variants, may not be comprehensive enough to identify all pathogenic variants. A comprehensive analytical approach capable of identifying noncodin...

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Literature Corpus work: 9b1f2088-4df5-531f-a59c-29ec6cdbc268
DOI: 10.21203/rs.3.rs-9078185/v1

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