Mauno Vihinen

Optimizing clinical interpretability of functional evidence in epilepsy-related ion channel variants

The paper develops a Bayesian framework to integrate functional evidence into clinical variant interpretation for epilepsy-related ion channel genes, identifying key parameters that influence pathogenicity classification.

TNFa hinders FGF4 efficacy to mitigate ALS astrocyte dysfunction and cGAS-STING pathway-induced innate immune reactivity

This study shows that FGF4 reduces ALS astrocyte reactivity but fails to protect motor neurons in a mouse model, while TNF exacerbates astrocyte dysfunction.

Variation benchmark datasets: update, criteria, quality and applications

The paper updates a benchmark dataset for variant effect prediction, categorizes new datasets, and demonstrates their utility in evaluating pathogenicity predictors.

How good are pathogenicity predictors in detecting benign variants?

The paper evaluates 10 variant pathogenicity predictors on 63,160 benign variants from the ExAC database, finding large specificity differences and identifying the best-performing tools.