Edwin Philip Kirk

The paper evaluates the bioinformatic tool POSTRE to distinguish pathogenic from benign GPR101 duplications associated with X-LAG by analyzing enhancer hijacking in a tissue-specific context.

This study benchmarks variant pathogenicity predictors using population genetics data, finding CADD and REVEL as the best performers and highlighting biases in ClinVar-based training.

This study identifies genetic and molecular factors underlying atrial septal defects in mice using QTL mapping and transcriptome analysis, revealing complex networks and non-coding variants involved.