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Open access Aug 2026

AlphaVaR: an R framework for the statistical interpretation of AlphaGenome variant-effect predictions

Summary AlphaGenome (Google DeepMind) scores a DNA variant across thousands of functional tracks at single-base resolution, reporting both the magnitude of each predicted effect and its rarity against a genome-wide background. That volume is itself the obstacle to biological interpretation. Here we present AlphaVaR, an...

Karim Marhaba, C. Maj, Johannes Schumacher et al. · 0 citations
Open access Aug 2026

Protein–protein interaction network architecture of human polygenic traits reveals domain-spanning connectivity and evolutionary pressures

Human polygenic phenotypes arise from the combined effects of many genes that interact within molecular networks. Yet, we know little about how the structure of these networks constrains or facilitates the evolution of complex traits. Here, we systematically examine the relationship between protein–protein interaction...

Ehsan Tamandeh, K. Kunwar, Jessica Bigge et al. · 0 citations
Review Oct 2026

Polygenic Risk Scores: Towards Clinical Application.

The current state of bench-to-bedside translation of polygenic risk scores (PRS) is reviewed and it is shown that quality standards must be established to ensure that the potential of PRS can be effectively translated into routine clinical practice.

Johannes Schumacher, V. Koch, C. Maj et al. · 0 citations

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