Latest Episodes
Episode 26
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May 20, 2025
26: Reannotation reveals functional non-coding mutations in melanoma
Pepe D et al., The American Journal of Human Genetics (112:1–21, June 5, 2025) - Pepe et al. show that annotating cancer mutations to...
00:15:49
Episode 25
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May 19, 2025
25: mtDNA discovery in Solve‑RD: phenotype‑driven reanalysis
Ratnaike et al et al., The American Journal of Human Genetics - A semi-automated mtDNA reanalysis pipeline using MToolBox and MitoPhen HPO-based phenotype similarity...
00:16:21
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...
00:14:53
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