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Open access Aug 2026

PKHD1L1 affects fertility in women

Reproduction is one of the most fundamental biological processes in the human body, yet the molecules governing it remain incompletely understood. Here, we have characterized the role of PKHD1L1 and its globally relatively common splice donor variant rs17368310 in female fertility. We demonstrate estrogen-responsive ex...

E. Kapiainen, M. Karjalainen, P. Petrov et al. · 0 citations
Open access Sep 2026

Clinical history shapes the predictive value of polygenic risk

For most diseases, whether PRS improves prediction beyond clinical data remains unknown, as existing evidence is concentrated in a handful of conditions with established risk models. Using 900,000 participants from UK Biobank and FinnGen, we developed and validated models for predicting 150 diseases and all-cause morta...

D. Usoltsev, I. Molotkov, N. Kolosov et al. · 0 citations
Open access Aug 2026

Multi-biobank genome-wide association study of dermatochalasis implicates genes involved in skin biology and morphology

A genome-wide association study across three large cohorts of dermatochalasis detected 18 genetic loci associated with dermatochalasis, characterized these loci in detail and demonstrated their relevance in skin biology and related processes.

K. Rajueni, F. Koskimaki, V. Salo et al. · 0 citations

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