Latest Episodes
Episode 84
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July 23, 2025
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...
00:17:12
Episode 83
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July 22, 2025
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...
00:25:47
Episode 82
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July 21, 2025
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...
00:19:07
Episode 81
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July 20, 2025
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...
00:21:10
Episode 80
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July 19, 2025
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...
00:16:15
Episode 79
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July 18, 2025
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...
00:17:17