paediatrics
paediatrics

Mate-Pair Sequencing Enables Identification and Delineation of Balanced and Unbalanced Structural Variants in Prenatal Cytogenomic Diagnostics

Clin Chem. 2025 Jan 3;71(1):155-168. doi: 10.1093/clinchem/hvae146. ABSTRACT BACKGROUND: Mate-pair sequencing detects both balanced and unbalanced structural variants (SVs) and simultaneously informs in relation to …

Low-Pass Whole Genome Sequencing of Cell-Free DNA from Cerebrospinal Fluid: A Focus on Pediatric Central Nervous System Tumors

Clin Chem. 2025 Jan 3;71(1):87-96. doi: 10.1093/clinchem/hvae140. ABSTRACT BACKGROUND: Cell-free DNA (cfDNA) technology has allowed for cerebrospinal fluid (CSF), a previously underutilized biofluid, to be …

Integrative Assessment of Total and Intact HIV-1 Reservoir by a 5-Region Multiplexed Rainbow DNA Digital PCR Assay

Clin Chem. 2025 Jan 3;71(1):203-214. doi: 10.1093/clinchem/hvae192. ABSTRACT BACKGROUND: Persistent latent reservoirs of intact HIV-1 proviruses, capable of rebounding despite suppressive antiretroviral therapy (ART), hinder …

Malignancy risk stratification for pulmonary nodules: comparing a deep learning approach to multiparametric statistical models in different disease groups

Eur Radiol. 2025 Jan 2. doi: 10.1007/s00330-024-11256-8. Online ahead of print. ABSTRACT OBJECTIVES: Incidentally detected pulmonary nodules present a challenge in clinical routine with demand …

Coupling metabolomics and exome sequencing reveals graded effects of rare damaging heterozygous variants on gene function and human traits

Nat Genet. 2025 Jan 2. doi: 10.1038/s41588-024-01965-7. Online ahead of print. ABSTRACT Genetic studies of the metabolome can uncover enzymatic and transport processes shaping human …

Two-hit mouse model of heart failure with preserved ejection fraction combining diet-induced obesity and renin-mediated hypertension

Sci Rep. 2025 Jan 2;15(1):422. doi: 10.1038/s41598-024-84515-9. ABSTRACT Heart failure with preserved ejection fraction (HFpEF) is increasingly common but its pathogenesis is poorly understood. The …