Scalable Functional Assays for the Interpretation of Human Genetic Variation

Author:

Tabet Daniel12,Parikh Victoria3,Mali Prashant4,Roth Frederick P.12,Claussnitzer Melina567

Affiliation:

1. Donnelly Centre, Department of Molecular Genetics, and Department of Computer Science, University of Toronto, Toronto, Ontario, Canada;

2. Lunenfeld-Tanenbaum Research Institute, Sinai Health, Toronto, Ontario, Canada

3. Center for Inherited Cardiovascular Disease, Division of Cardiovascular Medicine, Stanford University School of Medicine, Stanford, California, USA

4. Department of Bioengineering, University of California, San Diego, California, USA

5. Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA

6. Center for Genomic Medicine and Endocrine Division, Massachusetts General Hospital, Boston, Massachusetts, USA

7. Harvard Medical School, Harvard University, Boston, Massachusetts, USA;

Abstract

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.

Publisher

Annual Reviews

Subject

Genetics

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