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Author

M. Metspalu

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Open access Sep 2026

Massively parallel characterization reveals context-dependent and non-additive regulatory effects of closely spaced variant pairs

It is demonstrated that nearby variants within the same enhancer can jointly shape regulatory activity and highlight the importance of considering local allelic context when interpreting the functional effects of regulatory variation.

Rita Kreevan, V. Pankratov, D. Yermakovich et al. · 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. · 0 citations

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