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Scalable Functional Assays for the Interpretation of Human Genetic Variation. Annual review of genetics Tabet, D., Parikh, V., Mali, P., Roth, F. P., Claussnitzer, M. 2022

Abstract

Scalable sequence-function studies have enabled the systematic study 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 review, we explore current applications and prospects for the field, and outline the principles underlying scalable functional assay design, with a focus on the study of single-nucleotide coding and noncoding variants. Expected final online publication date for the Annual Review of Genetics, Volume 56 is November 2022. Please see http://www.annualreviews.org/page/journal/pubdates for revised estimates.

View details for DOI 10.1146/annurev-genet-072920-032107

View details for PubMedID 36055970