Article

Proteome-wide model for human disease genetics

2023-11-28

Abstract excerpt

Identifying variants driving disease accelerates both genetic diagnosis and therapeutic development, but missense variants still present a bottleneck as their effects are less straightforward than truncations or nonsense mutations. While computational prediction methods are sufficiently accurate to be of clinical value for variants in known disease genes, they do not generalize well to other genes as the scores a...

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Literature Corpus work: 783fa483-8c45-591f-9a43-c517e497a9ce
DOI: 10.1101/2023.11.27.23299062

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