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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

475: A Cell Line Fitness Score Predicts Cancer Risk in Li-Fraumeni Syndrome

Episode 475

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November 05, 2026

475: A Cell Line Fitness Score Predicts Cancer Risk in Li-Fraumeni Syndrome

Penkert J et al., The American Journal of Human Genetics - Carriers of disease-causing TP53 variants range from mild to severe cancer phenotypes. Using...

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00:09:57

474: Two collagen genes, two different risks

Episode 474

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November 04, 2026

474: Two collagen genes, two different risks

Tzoumkas K et al., The American Journal of Human Genetics - COL4A3 and COL4A4 are paralogous genes that build the same collagen IV network...

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00:19:39

473: Sixty years of cells that stop dividing

Episode 473

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November 03, 2026

473: Sixty years of cells that stop dividing

Klaver M et al., The EMBO Journal - In 1961, Hayflick and Moorhead showed that normal human fibroblasts divide only a finite number of...

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00:19:38

472: 490,319 genomes that fill the gaps in genetic studies

Episode 472

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November 02, 2026

472: 490,319 genomes that fill the gaps in genetic studies

Wienbrandt L et al., Nature Genetics - Most genetic studies read only a fraction of the genome and infer the rest from a reference...

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00:17:57

471: How cancer treatment picks winners among mutant clones in the normal esophagus

Episode 471

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October 30, 2026

471: How cancer treatment picks winners among mutant clones in the normal esophagus

Fowler J et al., Nature Genetics - Normal esophageal lining is a patchwork of mutant clones that compete for space as we age. This...

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00:17:54

470: The hidden swaps CRISPR leaves between sister chromosomes

Episode 470

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October 29, 2026

470: The hidden swaps CRISPR leaves between sister chromosomes

Chovanec P et al., eLife - When CRISPR/Cas9 cuts DNA, editing is usually judged by the small insertions and deletions left at the break....

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00:17:23

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