Latest Episodes
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...
00:14:12
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...
00:16:24
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...
00:17:05
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...
00:15:29
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...
00:18:18
Episode 18
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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...
00:25:14