Matches in SemOpenAlex for { <https://semopenalex.org/work/W4366549858> ?p ?o ?g. }
- W4366549858 abstract "Abstract 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." @default.
- W4366549858 created "2023-04-22" @default.
- W4366549858 creator A5000800469 @default.
- W4366549858 creator A5005977022 @default.
- W4366549858 creator A5022465002 @default.
- W4366549858 creator A5033300789 @default.
- W4366549858 creator A5047557155 @default.
- W4366549858 date "2023-04-20" @default.
- W4366549858 modified "2023-10-18" @default.
- W4366549858 title "satmut_utils: a simulation and variant calling package for multiplexed assays of variant effect" @default.
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- W4366549858 doi "https://doi.org/10.1186/s13059-023-02922-z" @default.