Clara J. Amorosi

Evidence for G6PD variant classification from multiplexed functional assays

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

Pacybara: Accurate long-read sequencing for barcoded mutagenized allelic libraries

Pacybara improves the accuracy of long-read sequencing for barcoded mutagenized libraries by addressing sequencing errors and non-unique barcodes.

PacRAT: A program to improve barcode-variant mapping from PacBio long reads using multiple sequence alignment

PacRAT improves barcode-variant mapping from PacBio long reads by enhancing alignment and consensus calling, increasing usable reads in both simulated and real libraries.

Massively parallel characterization of CYP2C9 variant enzyme activity and abundance

The paper characterizes CYP2C9 variant enzyme activity and abundance using Click-seq and VAMP-seq, finding that two-thirds of variants show decreased activity and abundance explains half the functional variation.

Experimental evolution reveals favored adaptive routes to cell aggregation in yeast

This study uses experimental evolution to identify genetic routes to yeast flocculation and shows that deleting FLO1 significantly reduces flocculation.