Erin Pleasance

CIViC-Fact evaluates AI models for verifying cancer variant interpretations using full-text evidence, showing abstracts are insufficient for accurate validation.

This paper presents a long-read sequencing dataset of cancer samples, showing its ability to resolve structural variants, haplotypes, and methylation patterns in precision medicine.

This paper shows that using a complete reference genome improves the accuracy and reduces false positives in detecting structural variants in cancer genomes.

PORI is an open-source platform for interpreting somatic variants in cancer, demonstrating that 88.2% of TCGA tumors have at least one potentially targetable alteration.