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Article

Classification of non-coding variants with high pathogenic impact.

PLoS genetics - 1 Apr 2022

Moyon Lambert, Berthelot Camille, Louis Alexandra, Nguyen Nga Thi Thuy, Roest Crollius Hugues

Abstract excerpt

Whole genome sequencing is increasingly used to diagnose medical conditions of genetic origin. While both coding and non-coding DNA variants contribute to a wide range of diseases, most patients who receive a WGS-based diagnosis today harbour a protein-coding mutation. Functional interpretation and prioritization of non-coding variants represents a persistent challenge, and disease-causing non-coding variants...

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PMID: 35486646
DOI: 10.1371/journal.pgen.1010191
PMCID: PMC9094564

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