Quantification of the effects of single nucleotide variants in NKX2.1 transcription factor binding sites
Freyda Lenihan-Geels, Sebastian Proft, Martin Bommer, Udo Heinemann, Dominik Seelow, Robert Opitz, Heiko Krude, Markus Schuelke, M.Z. Malecka
The paper quantifies how single nucleotide variants affect NKX2.1 transcription factor binding and uses neural networks to predict disease-causing variants in regulatory regions.
bioRxiv · Mar 2, 2026 · PreprintNeuroscience