86: Why Pathogenic Variant Impact Varies: Variant Effects, Polygenic Background, and Epistasis
Nature Communications - A biobank-scale study using UK Biobank and Mount Sinai BioMe exomes examines three genetic contributors to incomplete penetrance and variable severity of monogenic cardiometabo...
25 Heinä 202519min
️ 85: Genomic landscape of virus-associated cancers
️ Episode 85: Genomic landscape of virus-associated cancers In this episode of PaperCast Base by Base, we explore the comparative genomic analysis of virus-positive and virus-negative tumors across ni...
24 Heinä 202523min
84: NR6A1 and a newly described oculo‑vertebral‑renal (OVR) syndrome
Nature Communications - Genome sequencing identified rare NR6A1 variants in families with colobomatous microphthalmia, missing vertebrae and congenital kidney anomalies. In silico modeling, cell assay...
23 Heinä 202517min
83: Dup15q in Focus: Single-cell traces of metabolic and synaptic change
Perez Y et al., Nature Communications - This episode reviews a single-cell and spatial transcriptomic study of dup15q syndrome using patient postmortem cortex and hiPSC-derived cortical organoids. The...
22 Heinä 202525min
82: JAK2 inhibition drives RAS clonal selection in myelofibrosis
Maslah N et al., Nature Communications - Translational study showing ruxolitinib and JAK2 suppression select for RAS pathway–mutant clones in myelofibrosis, enhancing their fitness via MAPK activation...
21 Heinä 202519min
81: Pharmacogenetics in a Large Chinese Cohort
Wei C-Y et al et al., Nature Communications - Retrospective analysis of 486,956 Han Chinese from the Taiwan Precision Medicine Initiative evaluated prevalence and clinical impact of actionable pharmac...
20 Heinä 202521min
80: Genome sequencing predicts outcomes after congenital cardiac surgery
Watkins WS et al et al., Nature Communications - A prospective observational study of 2,253 Pediatric Cardiac Genomics Consortium patients shows that whole-exome sequencing combined with AI genome int...
19 Heinä 202516min
79: Cross-population GWAS and Proteomics Reveal AF Mechanisms and Better Risk Prediction
Nature Communications - A large cross-population GWAS meta-analysis (168,007 AF cases) integrated with proteomic data identifies hundreds of AF loci, implicates cardiac and TGF-β pathways, finds causa...
18 Heinä 202517min
