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Base by Base

Base by Base explores advances in genetics and genomics, with a focus on gene-disease associations, variant interpretation, protein structure, and insights from exome and genome sequencing. Each episode breaks down key studies and their clinical...more

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Latest Episodes

87: Tracing Allograft Injury with cfDNA Methylation

Episode 87

July 26, 2025

87: Tracing Allograft Injury with cfDNA Methylation

Nature Communications - This study used fragment-level, sequence-based DNA methylation of circulating cell-free DNA to map cellular origins of tissue damage after liver transplant....

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00:20:20

86: Why Pathogenic Variant Impact Varies: Variant Effects, Polygenic Background, and Epistasis

Episode 86

July 25, 2025

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...

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00:19:27

️ 85: Genomic landscape of virus-associated cancers

Episode 85

July 24, 2025

️ 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...

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00:23:15

84: NR6A1 and a newly described oculo‑vertebral‑renal (OVR) syndrome

Episode 84

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...

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00:17:12

83: Dup15q in Focus: Single-cell traces of metabolic and synaptic change

Episode 83

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...

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00:25:47

82: JAK2 inhibition drives RAS clonal selection in myelofibrosis

Episode 82

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...

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00:19:07