Scalable Functional Assays for the Interpretation of Human Genetic Variation

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...

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Bibliographic Details
Published in:Annual review of genetics 2022-11, Vol.56 (1), p.441-465
Main Authors: Tabet, Daniel, Parikh, Victoria, Mali, Prashant, Roth, Frederick P, Claussnitzer, Melina
Format: Article
Language:English
Subjects:
functional assays
Gene frequency
Genetic diversity
Genetic variance
Genetic Variation
Genome, Human - genetics
Genomes
Humans
multiplexed assays of variant effect
Nucleotides
sequence-function studies
variant effect mapping
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Summary: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 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.
ISSN:0066-4197
1545-2948
DOI:10.1146/annurev-genet-072920-032107