Development of automated patch clamp assays to overcome the burden of variants of uncertain significance in inheritable arrhythmia syndromes
Advances in next-generation sequencing have been exceptionally valuable for identifying
variants in medically actionable genes. However, for most missense variants there is …
variants in medically actionable genes. However, for most missense variants there is …
Joint genotypic and phenotypic outcome modeling improves base editing variant effect quantification
CRISPR base editing screens enable analysis of disease-associated variants at scale;
however, variable efficiency and precision confounds the assessment of variant-induced …
however, variable efficiency and precision confounds the assessment of variant-induced …
Activity-based selection for enhanced base editor mutational scanning
Base editing is a CRISPR-based technology that enables high-throughput, nucleotide-level
functional interrogation of the genome, which is essential for understanding the genetic …
functional interrogation of the genome, which is essential for understanding the genetic …