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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

75: How Metabolism Shapes Enzyme Structures Over 400 Million Years

Episode 75

July 14, 2025

75: How Metabolism Shapes Enzyme Structures Over 400 Million Years

Lemke O et al., Nature - A deep structural and evolutionary analysis of 11,269 enzyme structures across Saccharomycotina reveals how metabolic context sculpts protein...

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00:14:56

74: Benchmarking TCR-epitope predictors with ePytope-TCR

Episode 74

July 13, 2025

74: Benchmarking TCR-epitope predictors with ePytope-TCR

Drost F et al., Cell Genomics - Drost et al. integrated 21 pre-trained sequence-based TCR-epitope predictors into ePytope-TCR and benchmarked them on a viral...

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00:20:10

73: Family history and genetics in dementia

Episode 73

July 12, 2025

73: Family history and genetics in dementia

König T et al., Genetics in Medicine - A retrospective study of 701 memory clinic patients tested whether stratifying by age at onset and...

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00:15:55

72: POC5 ciliopathy: retinal, endocrine and neuromuscular syndrome

Episode 72

July 11, 2025

72: POC5 ciliopathy: retinal, endocrine and neuromuscular syndrome

Vulto-van Silfhout AT et al., Genetics in Medicine - A cohort study of twelve families shows that bi-allelic loss-of-function variants in POC5 cause a...

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00:19:44

71: ELFN1 Deficiency: Mechanisms and Clinical Spectrum

Episode 71

July 10, 2025

71: ELFN1 Deficiency: Mechanisms and Clinical Spectrum

Dore R et al., Genetics in Medicine - This episode reviews a multi-center study that defines ELFN1 deficiency as a recessive neurodevelopmental disorder. The...

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00:25:16

70: MSA and ternary-code DNA methylation

Episode 70

July 09, 2025

70: MSA and ternary-code DNA methylation

Goldberg DC et al., Cell Genomics - This episode examines the methylation screening array (MSA), a compact Infinium BeadChip optimized for trait-associated and cell-type...

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00:19:10