satmut_utils: a simulation and variant calling package for multiplexed assays of variant effect

The impact of millions of individual genetic variants on molecular phenotypes in coding sequences remains unknown. Multiplexed assays of variant effect (MAVEs) are scalable methods to annotate relevant variants, but existing software lacks standardization, requires cumbersome configuration, and does not scale to large targets. We present satmut_utils as a flexible solution for simulation and variant quantification. We then benchmark MAVE software using simulated and real MAVE data. We finally determine mRNA abundance for thousands of cystathionine beta-synthase variants using two experimental methods. The satmut_utils package enables high-performance analysis of MAVEs and reveals the capability of variants to alter mRNA abundance.

Automated summary

satmut_utils is a flexible solution for simulating and quantifying genetic variants, allowing for high-performance analysis of multiplexed assays of variant effect (MAVEs) and revealing the impact of variants on mRNA abundance.