Abby V. McGee

This study evaluates combinatorial CRISPR/Cas12a for locus excision in mammalian cells and finds low efficiency despite targeting intronic regions.

The paper introduces LAMPRAs to measure how cis-regulatory element composition affects gene expression using synthetic loci.

Abundance scores for 8,891 TSC2 missense variants, plus mTOR pathway activity scores for 391, were calibrated to ACMG/AMP evidence. They putatively reclassify 212 of 276 clinical-cohort missense VUS.

The paper classifies G6PD variants using functional assays to identify clinically relevant variants and those unlikely to contribute to G6PD deficiency.

The paper develops iPSC-SGE to assess variant effects in diverse genetic and cell contexts, identifying pathogenic variants and essential disease genes.

The paper introduces a modular CRISPR vector assembly system called Fragmid, enabling rapid creation and testing of CRISPR technologies through combinatorial design and pooled screening.

The paper optimizes Cas12a for multiplexed CRISPRa screens in human cells, enabling simultaneous activation of up to four genes and identifying criteria for selecting effective guides.

The paper benchmarks SpCas9 variants to improve base editor screens for BRCA1 and BCL2, identifying new insights into their genetic variants.