Author

R. Hofmeister

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Open access Sep 2026

Genome-wide mapping of common and rare variant effects on adiposity across childhood.

Our understanding of the genetic architecture of obesity is primarily based on studies of adults, with sparser data from childhood. Here, we conducted age-stratified genetic association studies against objectively measured (n = 62,276) or recalled childhood adiposity-related traits (neff = 599,924), identifying 624 com...

K. Kentistou, J. Sundfjord, R. Karimi et al. · Nature Genetics · 0 citations

Open access Aug 2026

Detecting CYP2C19 deletions from genotyping array signals using neural networks

This work developed a neural network model, nnCNV, to predict deletions in the CYP2C19 pharmacogene region from array intensity signals and demonstrated that long-range information, which cannot be utilized by hidden Markov models, can improve CNV calling.

Burak Yelmen, R. Hofmeister, Viido Kaur Lutsar et al. · bioRxiv · 0 citations