Experimental and Computational Approaches to Identify Noncoding Pathogenic Variation in Rare Disease.

doi:10.1146/annurev-genom-111124-024627

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Experimental and Computational Approaches to Identify Noncoding Pathogenic Variation in Rare Disease.

Annual review of genomics and human genetics - 1 Aug 2026

Covill Laura E, Romo Lindsay, O'Donnell-Luria Anne

Abstract excerpt

Noncoding variants occur within noncoding genes as well as within the regulatory nontranslated regions of protein-coding genes. It is important to be aware that these variants have been increasingly implicated in developmental disease through a variety of mechanisms. However, they remain difficult to interpret clinically due to their unclear effect on transcript or protein abundance compared with coding variants....

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PMID: 42166680
DOI: 10.1146/annurev-genom-111124-024627

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