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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

469: What the shape of a face reveals about cleft risk

Episode 469

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October 27, 2026

469: What the shape of a face reveals about cleft risk

Herrick N et al., Human Genetics and Genomics Advances - Orofacial clefts are among the most common birth defects, affecting about 1 in 700...

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00:18:17

468: When a splicing factor breaks in different ways

Episode 468

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October 25, 2026

468: When a splicing factor breaks in different ways

Lisfeld J et al., The American Journal of Human Genetics - SRSF3 is an essential splicing factor, one of the serine/arginine-rich proteins that help...

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00:17:30

467: Finding mutations carried by fewer than 1 in 100 cells

Episode 467

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October 18, 2026

467: Finding mutations carried by fewer than 1 in 100 cells

Jang Y et al., The American Journal of Human Genetics - Every cell in the body picks up its own small set of DNA...

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00:18:37

466: A quieter MECP2 switch and the male bias in autism

Episode 466

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October 16, 2026

466: A quieter MECP2 switch and the male bias in autism

Meyer-Schuman R et al., The American Journal of Human Genetics - Autism is diagnosed about four times more often in male individuals than in...

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00:18:45

465: When a lysosomal storage gene shows up only in the retina

Episode 465

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October 11, 2026

465: When a lysosomal storage gene shows up only in the retina

Lin et al., The American Journal of Human Genetics - Bi-allelic variants in IDUA classically cause mucopolysaccharidosis type I, a lysosomal storage disorder that...

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00:20:03

464: Burning fat while sparing muscle on GLP-1 drugs, in mice

Episode 464

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October 06, 2026

464: Burning fat while sparing muscle on GLP-1 drugs, in mice

Thorne et al., Proceedings of the National Academy of Sciences - GLP-1 receptor agonists such as semaglutide produce large weight loss, but part of...

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00:18:20

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