Article

Matching Variants for functional characterization of genetic variants

2023-02-23

Abstract excerpt

Rapid and low-cost sequencing, as well as computer analysis, have facilitated the diagnosis of many genetic diseases, resulting in a substantial rise in the number of disease-associated genes. However, genetic diagnosis of many disorders remains problematic due to the lack of interpretation for many genetic variants, especially missenses, the infeasibility of high-throughput experiments on mammals, and the shortco...

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Literature Corpus work: 0ec77747-fd1e-5b99-bd08-c9ec3bfdbccf
DOI: 10.1101/2023.02.22.529565

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