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D. Rots

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Open access Sep 2026

FRANK: a pan-cancer RNA-seq classifier for childhood tumors with data-efficient learning

Accurate characterization of tumor subtype is of paramount importance in guiding treatment decisions in pediatric cancers. Here, we present FRANK (Fully-connected RNA-based Augmentation Neural Klassifier), a machine learning approach for classifying pan-cancer pediatric tumors. We curated a set of 11,467 transcriptomes...

K. Sablauskas, T. Kiseļova, L. Bardina et al. · 0 citations
Open access Aug 2026

Polygenic risk score for early identification of coronary artery disease in a real-world clinical setting within the Latvian patient population

Investigating the utility of genome-wide association study - derived PRS and pathway-specific PRS in the Latvian population and demonstrating superior discrimination compared to pathway-specific PRS found incorporation of PRS enhances early-onset CAD risk prediction.

E. Kanašniece, Elita Ozola, L. Bardina et al. · 0 citations
Open access Jul 2026

Detection of miRNA in chronic spontaneous urticaria patients - pilot study

Although no subgroup-specific signatures were confirmed after correction for multiple testing, several candidate miRNAs were identified, supporting further investigation of miRNA-based biomarkers in CSU.

Lāsma Lapiņa, Katrīna Daila Neiburga-Vīgante, L. Gailīte et al. · 0 citations
Open access Jul 2026

Abnormal ClC-3/TMEM9-mediated endosomal ion transport in CLCN3-associated neurodevelopmental disease

The results expand the genetic and clinical spectrum of CLCN3-related disease, provide a solid basis for genetic counseling, and uncover an unexpected link between gating-associated conformational changes and inhibition by TMEM9.

Maya M. Polovitskaya, T. Tkemaladze, L. Jensen et al. · 0 citations
Open access Sep 2026

Monoallelic loss-of-function variants in ZNF536 are associated with a neurodevelopmental disorder with prominent behavioral features

Clinical cohort findings that rare monoallelic LoF variants in ZNF536 underlie a genetic neurodevelopmental disorder characterized by developmental delay, autism, and behavioral dysregulation support a role for ZNF536 as a dosage-sensitive regulator of cortical development.

S. Hiatt, Wen-Jing Zhao, Zhong-Qing Wang et al. · 0 citations

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