Article

Classification of non-coding variants with high pathogenic impact

2021-05-03

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 rema...

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Literature Corpus work: 980b16cd-942e-5657-b598-58abf8257e4d
DOI: 10.1101/2021.05.03.442347

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