Matthew Edwards

Knock-in = knock-out: differential fitness effects of cardinal mutations in Anopheles stephensi

The paper investigates fitness differences between knock-in and knock-out cd mutants in Anopheles stephensi, finding that knock-in mutants have reduced survival and midgut dysfunction, while knock-outs do not.

Beyond gene-disease validity: capturing structured data on inheritance, allelic-requirement, disease-relevant variant classes, and disease mechanism for inherited cardiac conditions

The paper structures evidence on inheritance, allelic requirement, and variant classes for inherited cardiac conditions to improve variant filtering in genomic testing.

Multi-model functionalization of disease-associated PTEN missense mutations identifies multiple molecular mechanisms underlying protein dysfunction

The paper evaluates 106 PTEN variants using 18 assays across 5 models to identify molecular mechanisms of dysfunction, finding that stability and domain-specific assays are critical for accurate impact assessment.

CardioClassifier: demonstrating the power of disease- and gene-specific computational decision support for clinical genome interpretation

CardioClassifier is a decision-support tool for inherited cardiac conditions that improves variant interpretation by integrating disease-specific annotations and case data.