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

We use stable expression of a cystathionine-beta synthase (CBS) variant library in HEK293T cells to identify CBS coding sequence variants that alter mRNA abundance Overall design: Amplicon and rapid amplification of cDNA ends (RACE)-like targeted library preparation chemistries were used to assay variant abundance in total RNA and gDNA by Next-Generation Sequencing

本研究通过在HEK293T细胞中稳定表达胱硫醚β合酶（cystathionine-beta synthase, CBS）变体文库，以筛选可改变mRNA丰度的CBS编码序列变体。
实验设计：采用类扩增子与cDNA末端快速扩增（rapid amplification of cDNA ends, RACE）靶向文库制备技术，通过下一代测序（Next-Generation Sequencing）检测总RNA与基因组DNA（gDNA）中的变体丰度。