Brian K. Mannakee

This paper reports the genomic profile of lymphatic malformations, identifies PIK3CA and NRAS mutations, and shows a response to the PI3K inhibitor alpelisib in a personalized trial.

BATCAVE improves somatic mutation detection by incorporating tumor-specific mutation profiles, enhancing variant calling accuracy and posterior probability calibration.

This study assesses the impact of GWAS on biomedical research publications and finds declining effects on publication rates for newly associated complex disease genes.

The paper introduces MAPEX, a BLAST-based algorithm to filter spurious genetic variant calls in xenografts and tumors, achieving comparable sensitivity and specificity to complex methods.