The power of multiplexed functional analysis of genetic variants

By Molly Gasperini, Lea M. Starita, Jay Shendure. 2016

146 citations recorded by the source corpus.

New technologies have recently enabled saturation mutagenesis and functional analysis of nearly all possible variants of regulatory elements or proteins of interest in single experiments. Here we discuss the past, present, and future of such multiplexed (functional) assays for variant effects (MAVEs). MAVEs provide detailed insight into sequence–function relationships, and they may prove critical for the prospective clinical interpretation of genetic variants.

Subfields: Genetics, Molecular Biology

Citations in the corpus

• Quantitative missense variant effect prediction using large-scale mutagenesis data (2017, neutral): “Experiments can reveal a variant’s molecular effect, and recent advances in multiplex assays have enabled the assessment of large numbers of variants (Fowler and Fields, 2014; Gasperini et al., 2016).”