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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

126: Smith-Magenis Syndrome: Chromatin Rewiring to Hyperexcitable Neurons

Episode 126

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September 03, 2025

126: Smith-Magenis Syndrome: Chromatin Rewiring to Hyperexcitable Neurons

Lee Y et al., The American Journal of Human Genetics - This episode reviews a study using hiPSC-derived 2D cortical neurons and 3D cortical...

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00:20:59

125: GP2: A Global Roadmap for Parkinson’s Genetics

Episode 125

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September 02, 2025

125: GP2: A Global Roadmap for Parkinson’s Genetics

Blauwendraat C et al., The American Journal of Human Genetics - This episode reviews a perspective on the Global Parkinson’s Genetics Program (GP2), a...

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00:22:46

124: Omnigenic Architecture and Core Genes in Ulcerative Colitis

Episode 124

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September 01, 2025

124: Omnigenic Architecture and Core Genes in Ulcerative Colitis

Ratajczak F et al., The American Journal of Human Genetics - This study uses the Speos graph machine-learning framework on multi-modal molecular networks to...

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00:23:47

123: Dominant-negative ATP5F1A variants and uncoupled oxidative phosphorylation

Episode 123

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August 31, 2025

123: Dominant-negative ATP5F1A variants and uncoupled oxidative phosphorylation

Fielder SM et al et al., EMBO Molecular Medicine - This episode examines a study that identifies de novo heterozygous missense variants in ATP5F1A...

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00:18:12

122: Patient stratification reveals the molecular basis of disease co-occurrences

Episode 122

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August 30, 2025

122: Patient stratification reveals the molecular basis of disease co-occurrences

Urda-García B et al., PNAS - This episode discusses a PNAS study that builds disease similarity networks from public RNA-seq data and shows that...

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00:19:57

121: G-quadruplexes, BRCA2, and a Helicase Weak Spot

Episode 121

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August 29, 2025

121: G-quadruplexes, BRCA2, and a Helicase Weak Spot

Keahia DL et al., Proceedings of the National Academy of Sciences (PNAS) - This study shows that G-quadruplex (G4) DNA structures are hotspots of...

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00:19:02