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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

24: X chromosome and dosage-compensation in complex traits

Episode 24

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May 18, 2025

24: X chromosome and dosage-compensation in complex traits

Fu Y et al., The American Journal of Human Genetics - Fu et al. (2025) analyze large biobank datasets to quantify how the X...

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00:14:53

23: Returning Additional Findings in the 100,000 Genomes Project

Episode 23

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May 17, 2025

23: Returning Additional Findings in the 100,000 Genomes Project

Stafford-Smith B et al., Genetics in Medicine - Mixed-methods evaluation of how 100,000 Genomes Project participants experienced receiving positive additional findings (PAFs) for cancer...

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00:14:12

22: When RNases Hide the Message: Naked exRNA, Immune Sensing, and Translation

Episode 22

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May 16, 2025

22: When RNases Hide the Message: Naked exRNA, Immune Sensing, and Translation

Castellano M et al., Cell Genomics - This study shows that extracellular ribonucleases mask the bioactivity of naked extracellular RNA (exRNA). When RNases are...

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00:16:24

21: Pooled prime editing maps functional human variants at scale

Episode 21

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May 16, 2025

21: Pooled prime editing maps functional human variants at scale

Herger M et al., Cell Genomics - Herger et al. present a pooled prime editing platform in haploid human cells that installs and assays...

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00:17:05

20: dhps Mutations and SP Protection

Episode 20

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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

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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