Tuomo Hartonen

Sex-related signatures in the plasma proteome not attributable to XX and XY chromosomes and their impact on health and disease

The paper introduces the Proteomic Sex Index (PSI), a continuous measure of plasma proteome alignment with chromosomal sex, showing its association with health and disease traits.

The impact of polygenic score and socioeconomic status in predicting risk for 19 complex diseases

This study examines how polygenic scores and socioeconomic status jointly influence risk for 19 diseases, finding distinct and partly interacting effects across populations.

Transferability and accuracy of electronic health record-based predictors compared to polygenic scores

This study compares EHR-based phenotype risk scores (PheRS) and polygenic scores (PGS) for predicting 13 diseases, finding they capture independent information and improve prediction when combined.

Evaluation of polygenic scoring methods in five biobanks reveals greater variability between biobanks than between methods and highlights benefits of ensemble learning

This study evaluates polygenic scoring methods across five biobanks and finds that biobank differences outweigh method differences, with ensemble learning improving performance.

Sequence determinants of human gene regulatory elements

The paper identifies sequence determinants of human gene regulatory elements by analyzing transcriptional activity of long DNA sequences in three cell types, revealing distinct enhancer types and TF subtypes based on motif content and activity patterns.

PlotMI: interpretation of pairwise dependencies and positional preferences learned by deep learning models from sequence data

PlotMI visualizes positional preferences and pairwise dependencies learned by sequence models, enabling comparison across models and datasets.