Latest Episodes
Episode 14
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April 25, 2025
14: Who Benefits from Large-Scale Genomic Programmes?
Horn R et al., European Journal of Human Genetics - Workshop report assessing the practical benefits and limits of national genomic programmes across societal,...
00:25:44
Episode 13
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April 25, 2025
13: Human de novo mutation rates from a four‑generation pedigree
Nature - A telomere‑to‑telomere, multigenerational study that uses five sequencing technologies to assemble and phase near‑complete diploid genomes from a 28‑member family (CEPH 1463)...
00:19:34
Episode 12
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April 19, 2025
12: MUTYH's allosteric [4Fe-4S] network
Trasviña-Arenas CH et al., Nature Communications - This episode explores a 2025 study that reports the first human MUTYH structure bound to a transition...
00:16:28
Episode 11
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April 19, 2025
11: Mitochondrial Weakness: Targeting Dnmt3a-Mutant Clonal Hematopoiesis
Nature Communications (2025) 16:3306 et al., Nature Communications - This study shows that Dnmt3a-mutant hematopoietic stem and progenitor cells (HSPCs) sustain elevated mitochondrial membrane...
00:19:15
Episode 10
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April 18, 2025
10: Assessing DNA variants for antisense oligonucleotide therapy
Cheerie D et al., The American Journal of Human Genetics - This episode summarizes the N1C VARIANT consensus guidelines (version 1.0) that define a...
00:19:38
Episode 9
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April 18, 2025
9: MrDAG and the causal architecture of mental health
Zuber V et al., The American Journal of Human Genetics - Zuber et al. introduce MrDAG, a Bayesian causal graphical model that combines Mendelian...
00:20:34