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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

20: dhps Mutations and SP Protection

Episode 20

May 16, 2025

20: dhps Mutations and SP Protection

Mousa A et al., Nature Communications - Pooled analysis of seven therapeutic efficacy trials (1639 participants, 12 African sites) quantifies how dhps resistance genotypes...

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00:15:29

19: Promoters & UTRs: Diagnoses from the Near‑Coding Genome

Episode 19

May 14, 2025

19: Promoters & UTRs: Diagnoses from the Near‑Coding Genome

Martin‑Geary AC et al et al., Genome Medicine - A systematic framework to prioritise promoter and UTR variants in 8040 undiagnosed trios from the...

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00:18:18

18: UGGT1-CDG: Bi-allelic UGGT1 variants and a new congenital disorder of glycosylation

Episode 18

May 13, 2025

18: UGGT1-CDG: Bi-allelic UGGT1 variants and a new congenital disorder of glycosylation

Dardas Z et al., The American Journal of Human Genetics - This episode reviews Dardas et al. (2025), which identifies bi-allelic UGGT1 variants in...

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00:25:14

17: The structure of human sweetness

Episode 17

May 13, 2025

17: The structure of human sweetness

Juen Z et al., Cell - This episode examines a cryo-EM study that resolves the human sweet taste receptor (TAS1R2+TAS1R3) bound to two artificial...

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00:20:18

16: Advancing equity in human genomics

Episode 16

April 25, 2025

16: Advancing equity in human genomics

Arruda AL et al., Cell Genomics - A commentary calling for generation of tissue-specific molecular data across diverse ancestries to improve fine-mapping, causal inference,...

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00:15:52

15: The genetic changes that shaped Neandertals, Denisovans, and modern humans

Episode 15

April 25, 2025

15: The genetic changes that shaped Neandertals, Denisovans, and modern humans

Zeberg H et al., Cell - A review of genetic differences among modern humans, Neandertals, and Denisovans, their functional consequences, and how introgression and...

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00:20:07