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Scalable Functional Assays for the Interpretation of Human Genetic Variation.

Annual review of genetics - 30 Nov 2022

Tabet Daniel, Parikh Victoria, Mali Prashant, Roth Frederick P, Claussnitzer Melina

Abstract excerpt

Scalable sequence-function studies have enabled the systematic analysis and cataloging of hundreds of thousands of coding and noncoding genetic variants in the human genome. This has improved clinical variant interpretation and provided insights into the molecular, biophysical, and cellular effects of genetic variants at an astonishing scale and resolution across the spectrum of allele frequencies. In this...

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PMID: 36055970
DOI: 10.1146/annurev-genet-072920-032107

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