Characterizing the pathogenicity of genetic variants: the consequences of context
Beyond initial discovery of a pathogenic variant, establishing that a variant is recurrently associated with disease is important for understanding clinical impact and disease etiology. Disappointingly, our ability to characterize pathogenicity under varied circumstances is limited. Here we discuss...
Main Authors: | , , , |
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Format: | Article |
Language: | English |
Published: |
Nature Portfolio
2024-01-01
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Series: | npj Genomic Medicine |
Online Access: | https://doi.org/10.1038/s41525-023-00386-5 |