John F. Thompson

This study uses electronic genome mapping to analyze how gRNA mismatches affect CRISPR/Cas9 binding specificity across the human genome, revealing key regions for on- and off-target activity.

The paper develops long-read sequencing assays to detect on- and off-target integration of rAAV vectors in human genomic DNA, finding no evidence of off-target integration.

The paper introduces a method to detect DNA contamination in tumor samples using microhaplotypes, achieving sensitivity for 1% contamination without a normal sample.

This paper compares SNP selection and concordance across three DTC genetic testing platforms, finding low SNP overlap and platform-specific strategies for ancestry determination.

The paper develops a method to detect mitochondrial heteroplasmy using NGS data and evaluates sources of mtDNA for clinical diagnostics.