Article

Functional Category-Specific Intolerance Reflects Genic Function and Clinical Relevance

2025-09-27

Abstract excerpt

A key problem in genetics is associating variants with disease phenotypes. In aid of this, much progress has been made in quantifying the functional impact of individual variants on the gene product it codes for. However, the intolerance of the sequence in which those variants are found to functional variation is also a key determinant of whether a deleterious variant is pathogenic or not. Previous approaches to e...

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Literature Corpus work: 6bc6a8a4-cd15-5038-abd6-b0cbb390cb5e
DOI: 10.1101/2025.09.24.678298

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