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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

123: Dominant-negative ATP5F1A variants and uncoupled oxidative phosphorylation

Episode 123

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

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

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

120: When the Clock Breaks: BMAL1 Variants and a Neurodevelopmental Syndrome

Episode 120

August 28, 2025

120: When the Clock Breaks: BMAL1 Variants and a Neurodevelopmental Syndrome

Cuddapah VA et al., Proceedings of the National Academy of Sciences (PNAS) - An international series of 10 individuals with ultrarare heterozygous BMAL1 variants...

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00:22:30

119: G-quadruplexes, pericentromeres, and B cell genome instability

Episode 119

August 27, 2025

119: G-quadruplexes, pericentromeres, and B cell genome instability

Waisertreiger I et al., PNAS - This study tests how stabilization of G-quadruplex (G4) DNA by ligands such as pyridostatin (PDS) affects genome stability...

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00:18:35

118: Cancer cells subvert the primate-specific KRAB zinc finger protein ZNF93 to control APOBEC3B

Episode 118

August 26, 2025

118: Cancer cells subvert the primate-specific KRAB zinc finger protein ZNF93 to control APOBEC3B

️ Episode 118: Cancer cells subvert the primate-specific KRAB zinc finger protein ZNF93 to control APOBEC3B In this episode of PaperCast Base by Base,...

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00:19:11